Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.60043304T>G , CM000672.2:g.60043304T>G	GRCh38
NC_000010.10:g.61803062T>G , CM000672.1:g.61803062T>G	GRCh37
NC_000010.9:g.61473068T>G	NCBI36
NG_029917.1:g.695223A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000467420.7:c.5311-545A>C	ENSP00000423968.2:n.5311-545A>C
ENST00000503366.6:c.5539-545A>C	ENSP00000425236.1:n.5539-545A>C
ENST00000280772.7:c.13066-545A>C MANE Select	ENSP00000280772.1:n.13066-545A>C
ENST00000280772.6:c.13066-545A>C	ENSP00000280772.1:n.13066-545A>C
ENST00000355288.6:c.2938-545A>C	ENSP00000347436.2:n.2938-545A>C
ENST00000373820.5:c.1312-545A>C	ENSP00000362926.1:n.1312-545A>C
ENST00000373827.6:c.5518-545A>C	ENSP00000362933.2:n.5518-545A>C
ENST00000480699.5:n.275-545A>C
ENST00000489505.2:n.1500A>C
ENST00000502769.5:c.433-545A>C	ENSP00000423057.1:n.433-545A>C
ENST00000503366.5:c.5539-545A>C	ENSP00000425236.1:n.5539-545A>C
ENST00000610321.4:c.4862-545A>C
ENST00000612776.4:c.471-548A>C
ENST00000616444.4:c.2852-545A>C
ENST00000617800.4:c.458-545A>C
ENST00000618374.4:c.*501-545A>C	ENSP00000479018.1:n.*501-545A>C
NM_001149.3:c.2938-545A>C	NP_001140.2:n.2938-545A>C
NM_001204403.1:c.5518-545A>C	NP_001191332.1:n.5518-545A>C
NM_001204404.1:c.5539-545A>C	NP_001191333.1:n.5539-545A>C
NM_020987.3:c.13066-545A>C	NP_066267.2:n.13066-545A>C
XM_005269715.2:c.5590-545A>C	XP_005269772.1:n.5590-545A>C
XM_005269716.2:c.5536-545A>C	XP_005269773.1:n.5536-545A>C
XM_006717791.2:c.8494-548A>C	XP_006717854.1:n.8494-548A>C
XM_006717793.2:c.8434-545A>C	XP_006717856.1:n.8434-545A>C
XM_006717795.2:c.8263-548A>C	XP_006717858.1:n.8263-548A>C
XM_006717796.2:c.8212-548A>C	XP_006717859.1:n.8212-548A>C
XM_006717802.2:c.5629-545A>C	XP_006717865.1:n.5629-545A>C
XM_011539700.1:c.8482-545A>C	XP_011538002.1:n.8482-545A>C
XM_011539701.1:c.8476-545A>C	XP_011538003.1:n.8476-545A>C
XM_011539702.1:c.8437-545A>C	XP_011538004.1:n.8437-545A>C
XM_011539703.1:c.8416-545A>C	XP_011538005.1:n.8416-545A>C
XM_011539704.1:c.8395-545A>C	XP_011538006.1:n.8395-545A>C
XM_011539705.1:c.8395-545A>C	XP_011538007.1:n.8395-545A>C
XM_011539706.1:c.8383-545A>C	XP_011538008.1:n.8383-545A>C
XM_011539707.1:c.8263-545A>C	XP_011538009.1:n.8263-545A>C
XM_011539708.1:c.8212-545A>C	XP_011538010.1:n.8212-545A>C
XM_011539709.1:c.7903-545A>C	XP_011538011.1:n.7903-545A>C
XM_011539710.1:c.5911-545A>C	XP_011538012.1:n.5911-545A>C
XM_011539711.1:c.5884-545A>C	XP_011538013.1:n.5884-545A>C
XM_011539712.1:c.5875-545A>C	XP_011538014.1:n.5875-545A>C
XM_011539713.1:c.5848-545A>C	XP_011538015.1:n.5848-545A>C
XM_011539714.1:c.5842-545A>C	XP_011538016.1:n.5842-545A>C
XM_011539715.1:c.5830-545A>C	XP_011538017.1:n.5830-545A>C
XM_011539716.1:c.5704-545A>C	XP_011538018.1:n.5704-545A>C
XM_011539717.1:c.5563-545A>C	XP_011538019.1:n.5563-545A>C
XM_011539718.1:c.5446-545A>C	XP_011538020.1:n.5446-545A>C
NM_001320874.1:c.5536-545A>C	NP_001307803.1:n.5536-545A>C
NM_020987.4:c.13066-545A>C	NP_066267.2:n.13066-545A>C
XM_005269715.3:c.5590-545A>C	XP_005269772.1:n.5590-545A>C
XM_006717796.3:c.8212-548A>C	XP_006717859.1:n.8212-548A>C
XM_006717802.3:c.5629-545A>C	XP_006717865.1:n.5629-545A>C
XM_011539708.2:c.8212-545A>C	XP_011538010.1:n.8212-545A>C
XM_011539709.2:c.7903-545A>C	XP_011538011.1:n.7903-545A>C
XM_017016110.1:c.13447-545A>C	XP_016871599.1:n.13447-545A>C
XM_017016111.1:c.13435-545A>C	XP_016871600.1:n.13435-545A>C
XM_017016112.1:c.13432-545A>C	XP_016871601.1:n.13432-545A>C
XM_017016113.1:c.13420-545A>C	XP_016871602.1:n.13420-545A>C
XM_017016114.1:c.13396-545A>C	XP_016871603.1:n.13396-545A>C
XM_017016115.1:c.13369-545A>C	XP_016871604.1:n.13369-545A>C
XM_017016116.1:c.13138-545A>C	XP_016871605.1:n.13138-545A>C
XM_017016117.1:c.13138-548A>C	XP_016871606.1:n.13138-548A>C
XM_017016118.1:c.12106-545A>C	XP_016871607.1:n.12106-545A>C
XM_017016119.1:c.11797-545A>C	XP_016871608.1:n.11797-545A>C
XM_017016120.1:c.11797-548A>C	XP_016871609.1:n.11797-548A>C
XM_017016121.1:c.11770-545A>C	XP_016871610.1:n.11770-545A>C
XM_017016122.1:c.8119-545A>C	XP_016871611.1:n.8119-545A>C
XM_017016123.1:c.7903-548A>C	XP_016871612.1:n.7903-548A>C
XM_017016124.1:c.7876-545A>C	XP_016871613.1:n.7876-545A>C
XM_017016125.1:c.7876-548A>C	XP_016871614.1:n.7876-548A>C
XM_017016126.1:c.7771-545A>C	XP_016871615.1:n.7771-545A>C
XM_017016127.1:c.7744-545A>C	XP_016871616.1:n.7744-545A>C
XM_017016128.1:c.5602-545A>C	XP_016871617.1:n.5602-545A>C
XM_017016129.1:c.5602-548A>C	XP_016871618.1:n.5602-548A>C
XM_017016130.1:c.5536-548A>C	XP_016871619.1:n.5536-548A>C
XM_017016131.1:c.5521-545A>C	XP_016871620.1:n.5521-545A>C
XM_017016132.1:c.5500-545A>C	XP_016871621.1:n.5500-545A>C
XM_017016134.1:c.5470-545A>C	XP_016871623.1:n.5470-545A>C
XM_017016136.1:c.5320-545A>C	XP_016871625.1:n.5320-545A>C
XM_017016137.1:c.5293-545A>C	XP_016871626.1:n.5293-545A>C
XM_017016138.1:c.5293-548A>C	XP_016871627.1:n.5293-548A>C
XM_017016141.1:c.5188-545A>C	XP_016871630.1:n.5188-545A>C
XM_024447953.1:c.13420-545A>C	XP_024303721.1:n.13420-545A>C
XM_024447954.1:c.13393-545A>C	XP_024303722.1:n.13393-545A>C
XM_024447955.1:c.13384-545A>C	XP_024303723.1:n.13384-545A>C
XM_024447956.1:c.13381-545A>C	XP_024303724.1:n.13381-545A>C
XM_024447957.1:c.13348-545A>C	XP_024303725.1:n.13348-545A>C
XM_024447958.1:c.13330-545A>C	XP_024303726.1:n.13330-545A>C
XM_024447959.1:c.13330-545A>C	XP_024303727.1:n.13330-545A>C
XM_024447960.1:c.13318-545A>C	XP_024303728.1:n.13318-545A>C
XM_024447961.1:c.13315-545A>C	XP_024303729.1:n.13315-545A>C
XM_024447962.1:c.12346-545A>C	XP_024303730.1:n.12346-545A>C
XM_024447963.1:c.8479-548A>C	XP_024303731.1:n.8479-548A>C
XM_024447964.1:c.5833-545A>C	XP_024303732.1:n.5833-545A>C
XM_024447965.1:c.5593-545A>C	XP_024303733.1:n.5593-545A>C
NM_020987.5:c.13066-545A>C MANE Select	NP_066267.2:n.13066-545A>C
NM_001204403.2:c.5518-545A>C	NP_001191332.1:n.5518-545A>C
NM_001204404.2:c.5539-545A>C	NP_001191333.1:n.5539-545A>C
NM_001320874.2:c.5536-545A>C	NP_001307803.1:n.5536-545A>C
NM_001149.4:c.2938-545A>C	NP_001140.2:n.2938-545A>C

Linked Data

Genomic Alleles

Transcript Alleles