Canonical Allele Identifier: CA413708356

Gene: ATRX

Linked Data

• dbSNP Id: rs2148438032
• MyVariant Identifiers: chrX:g.76907735C>A (hg19) ; chrX:g.77652245C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652245C>A , CM000685.2:g.77652245C>A	GRCh38
NC_000023.10:g.76907735C>A , CM000685.1:g.76907735C>A	GRCh37
NC_000023.9:g.76794391C>A	NCBI36
NG_008838.2:g.138977G>T
NG_008838.3:g.139025G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4426G>T MANE Select	ENSP00000362441.4:p.Gly1476Cys
ENST00000373344.9:c.4426G>T	ENSP00000362441.4:p.Gly1476Cys
ENST00000395603.7:c.4312G>T	ENSP00000378967.3:p.Gly1438Cys
ENST00000480283.5:c.*4054G>T	ENSP00000480196.1:n.*4054G>T
ENST00000623242.3:c.32G>T
NM_000489.4:c.4426G>T	NP_000480.3:p.Gly1476Cys
NM_138270.3:c.4312G>T	NP_612114.2:p.Gly1438Cys
XM_005262153.3:c.4423G>T	XP_005262210.2:p.Gly1475Cys
XM_005262154.3:c.4339G>T	XP_005262211.2:p.Gly1447Cys
XM_005262155.3:c.4309G>T	XP_005262212.2:p.Gly1437Cys
XM_005262156.3:c.4261G>T	XP_005262213.2:p.Gly1421Cys
XM_005262157.3:c.4222G>T	XP_005262214.2:p.Gly1408Cys
XM_006724666.2:c.4309G>T	XP_006724729.1:p.Gly1437Cys
XM_006724667.2:c.4147G>T	XP_006724730.1:p.Gly1383Cys
XM_006724668.2:c.4426G>T	XP_006724731.1:p.Gly1476Cys
XR_938400.1:n.4694G>T
NM_000489.5:c.4426G>T	NP_000480.3:p.Gly1476Cys
XM_005262153.5:c.4423G>T	XP_005262210.2:p.Gly1475Cys
XM_005262154.5:c.4339G>T	XP_005262211.2:p.Gly1447Cys
XM_005262155.4:c.4309G>T	XP_005262212.2:p.Gly1437Cys
XM_005262156.4:c.4261G>T	XP_005262213.2:p.Gly1421Cys
XM_005262157.5:c.4222G>T	XP_005262214.2:p.Gly1408Cys
XM_006724666.4:c.4309G>T	XP_006724729.1:p.Gly1437Cys
XM_006724667.3:c.4147G>T	XP_006724730.1:p.Gly1383Cys
XM_006724668.3:c.4426G>T	XP_006724731.1:p.Gly1476Cys
XM_017029601.2:c.4336G>T	XP_016885090.1:p.Gly1446Cys
XM_017029602.1:c.4306G>T	XP_016885091.1:p.Gly1436Cys
XM_017029603.1:c.4258G>T	XP_016885092.1:p.Gly1420Cys
XM_017029604.2:c.4225G>T	XP_016885093.1:p.Gly1409Cys
XM_017029605.1:c.4222G>T	XP_016885094.1:p.Gly1408Cys
XM_017029606.2:c.4195G>T	XP_016885095.1:p.Gly1399Cys
XM_017029607.2:c.4192G>T	XP_016885096.1:p.Gly1398Cys
XM_017029608.2:c.4144G>T	XP_016885097.1:p.Gly1382Cys
XM_017029609.1:c.4108G>T	XP_016885098.1:p.Gly1370Cys
XM_017029610.1:c.4105G>T	XP_016885099.1:p.Gly1369Cys
XM_017029611.1:c.4060G>T	XP_016885100.1:p.Gly1354Cys
XR_001755700.2:n.4651G>T
NM_138270.4:c.4312G>T	NP_612114.2:p.Gly1438Cys
NM_000489.6:c.4426G>T MANE Select	NP_000480.3:p.Gly1476Cys
NM_138270.5:c.4312G>T	NP_612114.2:p.Gly1438Cys