Canonical Allele Identifier: CA376994346

Gene: ANK3

Linked Data

• gnomAD v4: 10-60114285-T-A
• MyVariant Identifiers: chr10:g.61874043T>A (hg19) ; chr10:g.60114285T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.60114285T>A , CM000672.2:g.60114285T>A	GRCh38
NC_000010.10:g.61874043T>A , CM000672.1:g.61874043T>A	GRCh37
NC_000010.9:g.61544049T>A	NCBI36
NG_029917.1:g.624242A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467420.7:c.2846A>T	ENSP00000423968.2:p.Tyr949Phe
ENST00000503366.6:c.2891A>T	ENSP00000425236.1:p.Tyr964Phe
ENST00000280772.7:c.2888A>T MANE Select	ENSP00000280772.1:p.Tyr963Phe
ENST00000280772.6:c.2888A>T	ENSP00000280772.1:p.Tyr963Phe
ENST00000355288.6:c.290A>T	ENSP00000347436.2:p.Tyr97Phe
ENST00000373815.5:c.263A>T	ENSP00000362921.1:p.Tyr88Phe
ENST00000373827.6:c.2870A>T	ENSP00000362933.2:p.Tyr957Phe
ENST00000503366.5:c.2891A>T	ENSP00000425236.1:p.Tyr964Phe
ENST00000513049.5:c.263A>T	ENSP00000426582.1:p.Tyr88Phe
ENST00000618080.4:c.286A>T
ENST00000618374.4:c.290A>T	ENSP00000479018.1:p.Tyr97Phe
ENST00000622427.4:c.*1454A>T	ENSP00000483244.1:n.*1454A>T
NM_001149.3:c.290A>T	NP_001140.2:p.Tyr97Phe
NM_001204403.1:c.2870A>T	NP_001191332.1:p.Tyr957Phe
NM_001204404.1:c.2891A>T	NP_001191333.1:p.Tyr964Phe
NM_020987.3:c.2888A>T	NP_066267.2:p.Tyr963Phe
XM_005269715.2:c.2942A>T	XP_005269772.1:p.Tyr981Phe
XM_005269716.2:c.2888A>T	XP_005269773.1:p.Tyr963Phe
XM_006717791.2:c.2954A>T	XP_006717854.1:p.Tyr985Phe
XM_006717793.2:c.2954A>T	XP_006717856.1:p.Tyr985Phe
XM_006717795.2:c.2954A>T	XP_006717858.1:p.Tyr985Phe
XM_006717796.2:c.2954A>T	XP_006717859.1:p.Tyr985Phe
XM_006717802.2:c.2954A>T	XP_006717865.1:p.Tyr985Phe
XM_011539700.1:c.2942A>T	XP_011538002.1:p.Tyr981Phe
XM_011539701.1:c.2936A>T	XP_011538003.1:p.Tyr979Phe
XM_011539702.1:c.2897A>T	XP_011538004.1:p.Tyr966Phe
XM_011539703.1:c.2876A>T	XP_011538005.1:p.Tyr959Phe
XM_011539704.1:c.2855A>T	XP_011538006.1:p.Tyr952Phe
XM_011539705.1:c.2855A>T	XP_011538007.1:p.Tyr952Phe
XM_011539706.1:c.2843A>T	XP_011538008.1:p.Tyr948Phe
XM_011539707.1:c.2954A>T	XP_011538009.1:p.Tyr985Phe
XM_011539708.1:c.2954A>T	XP_011538010.1:p.Tyr985Phe
XM_011539709.1:c.2954A>T	XP_011538011.1:p.Tyr985Phe
XM_011539710.1:c.2954A>T	XP_011538012.1:p.Tyr985Phe
XM_011539711.1:c.2954A>T	XP_011538013.1:p.Tyr985Phe
XM_011539712.1:c.2954A>T	XP_011538014.1:p.Tyr985Phe
XM_011539713.1:c.2954A>T	XP_011538015.1:p.Tyr985Phe
XM_011539714.1:c.302A>T	XP_011538016.1:p.Tyr101Phe
XM_011539715.1:c.290A>T	XP_011538017.1:p.Tyr97Phe
XM_011539716.1:c.2954A>T	XP_011538018.1:p.Tyr985Phe
XM_011539717.1:c.2942A>T	XP_011538019.1:p.Tyr981Phe
XM_011539718.1:c.2825A>T	XP_011538020.1:p.Tyr942Phe
NM_001320874.1:c.2888A>T	NP_001307803.1:p.Tyr963Phe
NM_020987.4:c.2888A>T	NP_066267.2:p.Tyr963Phe
XM_005269715.3:c.2942A>T	XP_005269772.1:p.Tyr981Phe
XM_006717796.3:c.2954A>T	XP_006717859.1:p.Tyr985Phe
XM_006717802.3:c.2954A>T	XP_006717865.1:p.Tyr985Phe
XM_011539708.2:c.2954A>T	XP_011538010.1:p.Tyr985Phe
XM_011539709.2:c.2954A>T	XP_011538011.1:p.Tyr985Phe
XM_017016110.1:c.2954A>T	XP_016871599.1:p.Tyr985Phe
XM_017016111.1:c.2942A>T	XP_016871600.1:p.Tyr981Phe
XM_017016112.1:c.2939A>T	XP_016871601.1:p.Tyr980Phe
XM_017016113.1:c.2954A>T	XP_016871602.1:p.Tyr985Phe
XM_017016114.1:c.2903A>T	XP_016871603.1:p.Tyr968Phe
XM_017016115.1:c.2876A>T	XP_016871604.1:p.Tyr959Phe
XM_017016116.1:c.2954A>T	XP_016871605.1:p.Tyr985Phe
XM_017016117.1:c.2954A>T	XP_016871606.1:p.Tyr985Phe
XM_017016118.1:c.2954A>T	XP_016871607.1:p.Tyr985Phe
XM_017016119.1:c.2954A>T	XP_016871608.1:p.Tyr985Phe
XM_017016120.1:c.2954A>T	XP_016871609.1:p.Tyr985Phe
XM_017016121.1:c.2954A>T	XP_016871610.1:p.Tyr985Phe
XM_017016122.1:c.2888A>T	XP_016871611.1:p.Tyr963Phe
XM_017016123.1:c.2954A>T	XP_016871612.1:p.Tyr985Phe
XM_017016124.1:c.2954A>T	XP_016871613.1:p.Tyr985Phe
XM_017016125.1:c.2927A>T	XP_016871614.1:p.Tyr976Phe
XM_017016126.1:c.2822A>T	XP_016871615.1:p.Tyr941Phe
XM_017016127.1:c.2822A>T	XP_016871616.1:p.Tyr941Phe
XM_017016128.1:c.2954A>T	XP_016871617.1:p.Tyr985Phe
XM_017016129.1:c.2954A>T	XP_016871618.1:p.Tyr985Phe
XM_017016130.1:c.2888A>T	XP_016871619.1:p.Tyr963Phe
XM_017016131.1:c.2873A>T	XP_016871620.1:p.Tyr958Phe
XM_017016132.1:c.2888A>T	XP_016871621.1:p.Tyr963Phe
XM_017016134.1:c.2822A>T	XP_016871623.1:p.Tyr941Phe
XM_017016136.1:c.2954A>T	XP_016871625.1:p.Tyr985Phe
XM_017016137.1:c.2954A>T	XP_016871626.1:p.Tyr985Phe
XM_017016138.1:c.2954A>T	XP_016871627.1:p.Tyr985Phe
XM_017016141.1:c.2822A>T	XP_016871630.1:p.Tyr941Phe
XM_024447953.1:c.2927A>T	XP_024303721.1:p.Tyr976Phe
XM_024447954.1:c.2900A>T	XP_024303722.1:p.Tyr967Phe
XM_024447955.1:c.2891A>T	XP_024303723.1:p.Tyr964Phe
XM_024447956.1:c.2888A>T	XP_024303724.1:p.Tyr963Phe
XM_024447957.1:c.2855A>T	XP_024303725.1:p.Tyr952Phe
XM_024447958.1:c.2837A>T	XP_024303726.1:p.Tyr946Phe
XM_024447959.1:c.2837A>T	XP_024303727.1:p.Tyr946Phe
XM_024447960.1:c.2825A>T	XP_024303728.1:p.Tyr942Phe
XM_024447961.1:c.2822A>T	XP_024303729.1:p.Tyr941Phe
XM_024447962.1:c.2954A>T	XP_024303730.1:p.Tyr985Phe
XM_024447963.1:c.2954A>T	XP_024303731.1:p.Tyr985Phe
XM_024447964.1:c.2954A>T	XP_024303732.1:p.Tyr985Phe
XM_024447965.1:c.2954A>T	XP_024303733.1:p.Tyr985Phe
NM_020987.5:c.2888A>T MANE Select	NP_066267.2:p.Tyr963Phe
NM_001204403.2:c.2870A>T	NP_001191332.1:p.Tyr957Phe
NM_001204404.2:c.2891A>T	NP_001191333.1:p.Tyr964Phe
NM_001320874.2:c.2888A>T	NP_001307803.1:p.Tyr963Phe
NM_001149.4:c.290A>T	NP_001140.2:p.Tyr97Phe