Canonical Allele Identifier: CA517471474

Gene: ATRX

Linked Data

• dbSNP Id: rs2148437961
• MyVariant Identifiers: chrX:g.76907733G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652243G>A , CM000685.2:g.77652243G>A	GRCh38
NC_000023.10:g.76907733G>A , CM000685.1:g.76907733G>A	GRCh37
NC_000023.9:g.76794389G>A	NCBI36
NG_008838.2:g.138979C>T
NG_008838.3:g.139027C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4428C>T MANE Select	ENSP00000362441.4:p.Gly1476=
ENST00000373344.9:c.4428C>T	ENSP00000362441.4:p.Gly1476=
ENST00000395603.7:c.4314C>T	ENSP00000378967.3:p.Gly1438=
ENST00000480283.5:c.*4056C>T	ENSP00000480196.1:n.*4056C>T
ENST00000623242.3:c.34C>T
NM_000489.4:c.4428C>T	NP_000480.3:p.Gly1476=
NM_138270.3:c.4314C>T	NP_612114.2:p.Gly1438=
XM_005262153.3:c.4425C>T	XP_005262210.2:p.Gly1475=
XM_005262154.3:c.4341C>T	XP_005262211.2:p.Gly1447=
XM_005262155.3:c.4311C>T	XP_005262212.2:p.Gly1437=
XM_005262156.3:c.4263C>T	XP_005262213.2:p.Gly1421=
XM_005262157.3:c.4224C>T	XP_005262214.2:p.Gly1408=
XM_006724666.2:c.4311C>T	XP_006724729.1:p.Gly1437=
XM_006724667.2:c.4149C>T	XP_006724730.1:p.Gly1383=
XM_006724668.2:c.4428C>T	XP_006724731.1:p.Gly1476=
XR_938400.1:n.4696C>T
NM_000489.5:c.4428C>T	NP_000480.3:p.Gly1476=
XM_005262153.5:c.4425C>T	XP_005262210.2:p.Gly1475=
XM_005262154.5:c.4341C>T	XP_005262211.2:p.Gly1447=
XM_005262155.4:c.4311C>T	XP_005262212.2:p.Gly1437=
XM_005262156.4:c.4263C>T	XP_005262213.2:p.Gly1421=
XM_005262157.5:c.4224C>T	XP_005262214.2:p.Gly1408=
XM_006724666.4:c.4311C>T	XP_006724729.1:p.Gly1437=
XM_006724667.3:c.4149C>T	XP_006724730.1:p.Gly1383=
XM_006724668.3:c.4428C>T	XP_006724731.1:p.Gly1476=
XM_017029601.2:c.4338C>T	XP_016885090.1:p.Gly1446=
XM_017029602.1:c.4308C>T	XP_016885091.1:p.Gly1436=
XM_017029603.1:c.4260C>T	XP_016885092.1:p.Gly1420=
XM_017029604.2:c.4227C>T	XP_016885093.1:p.Gly1409=
XM_017029605.1:c.4224C>T	XP_016885094.1:p.Gly1408=
XM_017029606.2:c.4197C>T	XP_016885095.1:p.Gly1399=
XM_017029607.2:c.4194C>T	XP_016885096.1:p.Gly1398=
XM_017029608.2:c.4146C>T	XP_016885097.1:p.Gly1382=
XM_017029609.1:c.4110C>T	XP_016885098.1:p.Gly1370=
XM_017029610.1:c.4107C>T	XP_016885099.1:p.Gly1369=
XM_017029611.1:c.4062C>T	XP_016885100.1:p.Gly1354=
XR_001755700.2:n.4653C>T
NM_138270.4:c.4314C>T	NP_612114.2:p.Gly1438=
NM_000489.6:c.4428C>T MANE Select	NP_000480.3:p.Gly1476=
NM_138270.5:c.4314C>T	NP_612114.2:p.Gly1438=