Canonical Allele Identifier: CA413708358

Gene: ATRX

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4426G>A MANE Select	ENSP00000362441.4:p.Gly1476Ser
ENST00000373344.9:c.4426G>A	ENSP00000362441.4:p.Gly1476Ser
ENST00000395603.7:c.4312G>A	ENSP00000378967.3:p.Gly1438Ser
ENST00000480283.5:c.*4054G>A	ENSP00000480196.1:n.*4054G>A
ENST00000623242.3:c.32G>A
NM_000489.4:c.4426G>A	NP_000480.3:p.Gly1476Ser
NM_138270.3:c.4312G>A	NP_612114.2:p.Gly1438Ser
XM_005262153.3:c.4423G>A	XP_005262210.2:p.Gly1475Ser
XM_005262154.3:c.4339G>A	XP_005262211.2:p.Gly1447Ser
XM_005262155.3:c.4309G>A	XP_005262212.2:p.Gly1437Ser
XM_005262156.3:c.4261G>A	XP_005262213.2:p.Gly1421Ser
XM_005262157.3:c.4222G>A	XP_005262214.2:p.Gly1408Ser
XM_006724666.2:c.4309G>A	XP_006724729.1:p.Gly1437Ser
XM_006724667.2:c.4147G>A	XP_006724730.1:p.Gly1383Ser
XM_006724668.2:c.4426G>A	XP_006724731.1:p.Gly1476Ser
XR_938400.1:n.4694G>A
NM_000489.5:c.4426G>A	NP_000480.3:p.Gly1476Ser
XM_005262153.5:c.4423G>A	XP_005262210.2:p.Gly1475Ser
XM_005262154.5:c.4339G>A	XP_005262211.2:p.Gly1447Ser
XM_005262155.4:c.4309G>A	XP_005262212.2:p.Gly1437Ser
XM_005262156.4:c.4261G>A	XP_005262213.2:p.Gly1421Ser
XM_005262157.5:c.4222G>A	XP_005262214.2:p.Gly1408Ser
XM_006724666.4:c.4309G>A	XP_006724729.1:p.Gly1437Ser
XM_006724667.3:c.4147G>A	XP_006724730.1:p.Gly1383Ser
XM_006724668.3:c.4426G>A	XP_006724731.1:p.Gly1476Ser
XM_017029601.2:c.4336G>A	XP_016885090.1:p.Gly1446Ser
XM_017029602.1:c.4306G>A	XP_016885091.1:p.Gly1436Ser
XM_017029603.1:c.4258G>A	XP_016885092.1:p.Gly1420Ser
XM_017029604.2:c.4225G>A	XP_016885093.1:p.Gly1409Ser
XM_017029605.1:c.4222G>A	XP_016885094.1:p.Gly1408Ser
XM_017029606.2:c.4195G>A	XP_016885095.1:p.Gly1399Ser
XM_017029607.2:c.4192G>A	XP_016885096.1:p.Gly1398Ser
XM_017029608.2:c.4144G>A	XP_016885097.1:p.Gly1382Ser
XM_017029609.1:c.4108G>A	XP_016885098.1:p.Gly1370Ser
XM_017029610.1:c.4105G>A	XP_016885099.1:p.Gly1369Ser
XM_017029611.1:c.4060G>A	XP_016885100.1:p.Gly1354Ser
XR_001755700.2:n.4651G>A
NM_138270.4:c.4312G>A	NP_612114.2:p.Gly1438Ser
NM_000489.6:c.4426G>A MANE Select	NP_000480.3:p.Gly1476Ser
NM_138270.5:c.4312G>A	NP_612114.2:p.Gly1438Ser