Canonical Allele Identifier: CA376994384

Gene: ANK3

Linked Data

• dbSNP Id: rs2092929613
• gnomAD v4: 10-60114301-C-G
• MyVariant Identifiers: chr10:g.61874059C>G (hg19) ; chr10:g.60114301C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.60114301C>G , CM000672.2:g.60114301C>G	GRCh38
NC_000010.10:g.61874059C>G , CM000672.1:g.61874059C>G	GRCh37
NC_000010.9:g.61544065C>G	NCBI36
NG_029917.1:g.624226G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467420.7:c.2830G>C	ENSP00000423968.2:p.Asp944His
ENST00000503366.6:c.2875G>C	ENSP00000425236.1:p.Asp959His
ENST00000280772.7:c.2872G>C MANE Select	ENSP00000280772.1:p.Asp958His
ENST00000280772.6:c.2872G>C	ENSP00000280772.1:p.Asp958His
ENST00000355288.6:c.274G>C	ENSP00000347436.2:p.Asp92His
ENST00000373815.5:c.247G>C	ENSP00000362921.1:p.Asp83His
ENST00000373827.6:c.2854G>C	ENSP00000362933.2:p.Asp952His
ENST00000503366.5:c.2875G>C	ENSP00000425236.1:p.Asp959His
ENST00000513049.5:c.247G>C	ENSP00000426582.1:p.Asp83His
ENST00000618080.4:c.270G>C
ENST00000618374.4:c.274G>C	ENSP00000479018.1:p.Asp92His
ENST00000622427.4:c.*1438G>C	ENSP00000483244.1:n.*1438G>C
NM_001149.3:c.274G>C	NP_001140.2:p.Asp92His
NM_001204403.1:c.2854G>C	NP_001191332.1:p.Asp952His
NM_001204404.1:c.2875G>C	NP_001191333.1:p.Asp959His
NM_020987.3:c.2872G>C	NP_066267.2:p.Asp958His
XM_005269715.2:c.2926G>C	XP_005269772.1:p.Asp976His
XM_005269716.2:c.2872G>C	XP_005269773.1:p.Asp958His
XM_006717791.2:c.2938G>C	XP_006717854.1:p.Asp980His
XM_006717793.2:c.2938G>C	XP_006717856.1:p.Asp980His
XM_006717795.2:c.2938G>C	XP_006717858.1:p.Asp980His
XM_006717796.2:c.2938G>C	XP_006717859.1:p.Asp980His
XM_006717802.2:c.2938G>C	XP_006717865.1:p.Asp980His
XM_011539700.1:c.2926G>C	XP_011538002.1:p.Asp976His
XM_011539701.1:c.2920G>C	XP_011538003.1:p.Asp974His
XM_011539702.1:c.2881G>C	XP_011538004.1:p.Asp961His
XM_011539703.1:c.2860G>C	XP_011538005.1:p.Asp954His
XM_011539704.1:c.2839G>C	XP_011538006.1:p.Asp947His
XM_011539705.1:c.2839G>C	XP_011538007.1:p.Asp947His
XM_011539706.1:c.2827G>C	XP_011538008.1:p.Asp943His
XM_011539707.1:c.2938G>C	XP_011538009.1:p.Asp980His
XM_011539708.1:c.2938G>C	XP_011538010.1:p.Asp980His
XM_011539709.1:c.2938G>C	XP_011538011.1:p.Asp980His
XM_011539710.1:c.2938G>C	XP_011538012.1:p.Asp980His
XM_011539711.1:c.2938G>C	XP_011538013.1:p.Asp980His
XM_011539712.1:c.2938G>C	XP_011538014.1:p.Asp980His
XM_011539713.1:c.2938G>C	XP_011538015.1:p.Asp980His
XM_011539714.1:c.286G>C	XP_011538016.1:p.Asp96His
XM_011539715.1:c.274G>C	XP_011538017.1:p.Asp92His
XM_011539716.1:c.2938G>C	XP_011538018.1:p.Asp980His
XM_011539717.1:c.2926G>C	XP_011538019.1:p.Asp976His
XM_011539718.1:c.2809G>C	XP_011538020.1:p.Asp937His
NM_001320874.1:c.2872G>C	NP_001307803.1:p.Asp958His
NM_020987.4:c.2872G>C	NP_066267.2:p.Asp958His
XM_005269715.3:c.2926G>C	XP_005269772.1:p.Asp976His
XM_006717796.3:c.2938G>C	XP_006717859.1:p.Asp980His
XM_006717802.3:c.2938G>C	XP_006717865.1:p.Asp980His
XM_011539708.2:c.2938G>C	XP_011538010.1:p.Asp980His
XM_011539709.2:c.2938G>C	XP_011538011.1:p.Asp980His
XM_017016110.1:c.2938G>C	XP_016871599.1:p.Asp980His
XM_017016111.1:c.2926G>C	XP_016871600.1:p.Asp976His
XM_017016112.1:c.2923G>C	XP_016871601.1:p.Asp975His
XM_017016113.1:c.2938G>C	XP_016871602.1:p.Asp980His
XM_017016114.1:c.2887G>C	XP_016871603.1:p.Asp963His
XM_017016115.1:c.2860G>C	XP_016871604.1:p.Asp954His
XM_017016116.1:c.2938G>C	XP_016871605.1:p.Asp980His
XM_017016117.1:c.2938G>C	XP_016871606.1:p.Asp980His
XM_017016118.1:c.2938G>C	XP_016871607.1:p.Asp980His
XM_017016119.1:c.2938G>C	XP_016871608.1:p.Asp980His
XM_017016120.1:c.2938G>C	XP_016871609.1:p.Asp980His
XM_017016121.1:c.2938G>C	XP_016871610.1:p.Asp980His
XM_017016122.1:c.2872G>C	XP_016871611.1:p.Asp958His
XM_017016123.1:c.2938G>C	XP_016871612.1:p.Asp980His
XM_017016124.1:c.2938G>C	XP_016871613.1:p.Asp980His
XM_017016125.1:c.2911G>C	XP_016871614.1:p.Asp971His
XM_017016126.1:c.2806G>C	XP_016871615.1:p.Asp936His
XM_017016127.1:c.2806G>C	XP_016871616.1:p.Asp936His
XM_017016128.1:c.2938G>C	XP_016871617.1:p.Asp980His
XM_017016129.1:c.2938G>C	XP_016871618.1:p.Asp980His
XM_017016130.1:c.2872G>C	XP_016871619.1:p.Asp958His
XM_017016131.1:c.2857G>C	XP_016871620.1:p.Asp953His
XM_017016132.1:c.2872G>C	XP_016871621.1:p.Asp958His
XM_017016134.1:c.2806G>C	XP_016871623.1:p.Asp936His
XM_017016136.1:c.2938G>C	XP_016871625.1:p.Asp980His
XM_017016137.1:c.2938G>C	XP_016871626.1:p.Asp980His
XM_017016138.1:c.2938G>C	XP_016871627.1:p.Asp980His
XM_017016141.1:c.2806G>C	XP_016871630.1:p.Asp936His
XM_024447953.1:c.2911G>C	XP_024303721.1:p.Asp971His
XM_024447954.1:c.2884G>C	XP_024303722.1:p.Asp962His
XM_024447955.1:c.2875G>C	XP_024303723.1:p.Asp959His
XM_024447956.1:c.2872G>C	XP_024303724.1:p.Asp958His
XM_024447957.1:c.2839G>C	XP_024303725.1:p.Asp947His
XM_024447958.1:c.2821G>C	XP_024303726.1:p.Asp941His
XM_024447959.1:c.2821G>C	XP_024303727.1:p.Asp941His
XM_024447960.1:c.2809G>C	XP_024303728.1:p.Asp937His
XM_024447961.1:c.2806G>C	XP_024303729.1:p.Asp936His
XM_024447962.1:c.2938G>C	XP_024303730.1:p.Asp980His
XM_024447963.1:c.2938G>C	XP_024303731.1:p.Asp980His
XM_024447964.1:c.2938G>C	XP_024303732.1:p.Asp980His
XM_024447965.1:c.2938G>C	XP_024303733.1:p.Asp980His
NM_020987.5:c.2872G>C MANE Select	NP_066267.2:p.Asp958His
NM_001204403.2:c.2854G>C	NP_001191332.1:p.Asp952His
NM_001204404.2:c.2875G>C	NP_001191333.1:p.Asp959His
NM_001320874.2:c.2872G>C	NP_001307803.1:p.Asp958His
NM_001149.4:c.274G>C	NP_001140.2:p.Asp92His