Canonical Allele Identifier: CA413701015

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829754T>A (hg19) ; chrX:g.77574289T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574289T>A , CM000685.2:g.77574289T>A	GRCh38
NC_000023.10:g.76829754T>A , CM000685.1:g.76829754T>A	GRCh37
NC_000023.9:g.76716410T>A	NCBI36
NG_008838.2:g.216933A>T
NG_008838.3:g.216981A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6287A>T MANE Select	ENSP00000362441.4:p.Lys2096Met
ENST00000675732.1:c.1385A>T	ENSP00000502598.1:p.Lys462Met
ENST00000373344.9:c.6287A>T	ENSP00000362441.4:p.Lys2096Met
ENST00000395603.7:c.6173A>T	ENSP00000378967.3:p.Lys2058Met
ENST00000480283.5:c.*5915A>T	ENSP00000480196.1:n.*5915A>T
ENST00000623316.1:c.771A>T
ENST00000623706.3:n.3357A>T
NM_000489.4:c.6287A>T	NP_000480.3:p.Lys2096Met
NM_138270.3:c.6173A>T	NP_612114.2:p.Lys2058Met
XM_005262153.3:c.6284A>T	XP_005262210.2:p.Lys2095Met
XM_005262154.3:c.6200A>T	XP_005262211.2:p.Lys2067Met
XM_005262155.3:c.6170A>T	XP_005262212.2:p.Lys2057Met
XM_005262156.3:c.6122A>T	XP_005262213.2:p.Lys2041Met
XM_005262157.3:c.6083A>T	XP_005262214.2:p.Lys2028Met
XM_006724666.2:c.6170A>T	XP_006724729.1:p.Lys2057Met
XM_006724667.2:c.6008A>T	XP_006724730.1:p.Lys2003Met
XR_938400.1:n.6629A>T
NM_000489.5:c.6287A>T	NP_000480.3:p.Lys2096Met
XM_005262153.5:c.6284A>T	XP_005262210.2:p.Lys2095Met
XM_005262154.5:c.6200A>T	XP_005262211.2:p.Lys2067Met
XM_005262155.4:c.6170A>T	XP_005262212.2:p.Lys2057Met
XM_005262156.4:c.6122A>T	XP_005262213.2:p.Lys2041Met
XM_005262157.5:c.6083A>T	XP_005262214.2:p.Lys2028Met
XM_006724666.4:c.6170A>T	XP_006724729.1:p.Lys2057Met
XM_006724667.3:c.6008A>T	XP_006724730.1:p.Lys2003Met
XM_017029601.2:c.6197A>T	XP_016885090.1:p.Lys2066Met
XM_017029602.1:c.6167A>T	XP_016885091.1:p.Lys2056Met
XM_017029603.1:c.6119A>T	XP_016885092.1:p.Lys2040Met
XM_017029604.2:c.6086A>T	XP_016885093.1:p.Lys2029Met
XM_017029605.1:c.6083A>T	XP_016885094.1:p.Lys2028Met
XM_017029606.2:c.6056A>T	XP_016885095.1:p.Lys2019Met
XM_017029607.2:c.6053A>T	XP_016885096.1:p.Lys2018Met
XM_017029608.2:c.6005A>T	XP_016885097.1:p.Lys2002Met
XM_017029609.1:c.5969A>T	XP_016885098.1:p.Lys1990Met
XM_017029610.1:c.5966A>T	XP_016885099.1:p.Lys1989Met
XM_017029611.1:c.5921A>T	XP_016885100.1:p.Lys1974Met
XR_001755700.2:n.6586A>T
NM_138270.4:c.6173A>T	NP_612114.2:p.Lys2058Met
NM_000489.6:c.6287A>T MANE Select	NP_000480.3:p.Lys2096Met
NM_138270.5:c.6173A>T	NP_612114.2:p.Lys2058Met