Canonical Allele Identifier: CA413708354

Gene: ATRX

Linked Data

• dbSNP Id: rs2148437998
• MyVariant Identifiers: chrX:g.76907734C>G (hg19) ; chrX:g.77652244C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652244C>G , CM000685.2:g.77652244C>G	GRCh38
NC_000023.10:g.76907734C>G , CM000685.1:g.76907734C>G	GRCh37
NC_000023.9:g.76794390C>G	NCBI36
NG_008838.2:g.138978G>C
NG_008838.3:g.139026G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4427G>C MANE Select	ENSP00000362441.4:p.Gly1476Ala
ENST00000373344.9:c.4427G>C	ENSP00000362441.4:p.Gly1476Ala
ENST00000395603.7:c.4313G>C	ENSP00000378967.3:p.Gly1438Ala
ENST00000480283.5:c.*4055G>C	ENSP00000480196.1:n.*4055G>C
ENST00000623242.3:c.33G>C
NM_000489.4:c.4427G>C	NP_000480.3:p.Gly1476Ala
NM_138270.3:c.4313G>C	NP_612114.2:p.Gly1438Ala
XM_005262153.3:c.4424G>C	XP_005262210.2:p.Gly1475Ala
XM_005262154.3:c.4340G>C	XP_005262211.2:p.Gly1447Ala
XM_005262155.3:c.4310G>C	XP_005262212.2:p.Gly1437Ala
XM_005262156.3:c.4262G>C	XP_005262213.2:p.Gly1421Ala
XM_005262157.3:c.4223G>C	XP_005262214.2:p.Gly1408Ala
XM_006724666.2:c.4310G>C	XP_006724729.1:p.Gly1437Ala
XM_006724667.2:c.4148G>C	XP_006724730.1:p.Gly1383Ala
XM_006724668.2:c.4427G>C	XP_006724731.1:p.Gly1476Ala
XR_938400.1:n.4695G>C
NM_000489.5:c.4427G>C	NP_000480.3:p.Gly1476Ala
XM_005262153.5:c.4424G>C	XP_005262210.2:p.Gly1475Ala
XM_005262154.5:c.4340G>C	XP_005262211.2:p.Gly1447Ala
XM_005262155.4:c.4310G>C	XP_005262212.2:p.Gly1437Ala
XM_005262156.4:c.4262G>C	XP_005262213.2:p.Gly1421Ala
XM_005262157.5:c.4223G>C	XP_005262214.2:p.Gly1408Ala
XM_006724666.4:c.4310G>C	XP_006724729.1:p.Gly1437Ala
XM_006724667.3:c.4148G>C	XP_006724730.1:p.Gly1383Ala
XM_006724668.3:c.4427G>C	XP_006724731.1:p.Gly1476Ala
XM_017029601.2:c.4337G>C	XP_016885090.1:p.Gly1446Ala
XM_017029602.1:c.4307G>C	XP_016885091.1:p.Gly1436Ala
XM_017029603.1:c.4259G>C	XP_016885092.1:p.Gly1420Ala
XM_017029604.2:c.4226G>C	XP_016885093.1:p.Gly1409Ala
XM_017029605.1:c.4223G>C	XP_016885094.1:p.Gly1408Ala
XM_017029606.2:c.4196G>C	XP_016885095.1:p.Gly1399Ala
XM_017029607.2:c.4193G>C	XP_016885096.1:p.Gly1398Ala
XM_017029608.2:c.4145G>C	XP_016885097.1:p.Gly1382Ala
XM_017029609.1:c.4109G>C	XP_016885098.1:p.Gly1370Ala
XM_017029610.1:c.4106G>C	XP_016885099.1:p.Gly1369Ala
XM_017029611.1:c.4061G>C	XP_016885100.1:p.Gly1354Ala
XR_001755700.2:n.4652G>C
NM_138270.4:c.4313G>C	NP_612114.2:p.Gly1438Ala
NM_000489.6:c.4427G>C MANE Select	NP_000480.3:p.Gly1476Ala
NM_138270.5:c.4313G>C	NP_612114.2:p.Gly1438Ala