Canonical Allele Identifier: CA413700893

Gene: ATRX

Linked Data

• dbSNP Id: rs2148019575
• MyVariant Identifiers: chrX:g.76829731C>A (hg19) ; chrX:g.77574266C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574266C>A , CM000685.2:g.77574266C>A	GRCh38
NC_000023.10:g.76829731C>A , CM000685.1:g.76829731C>A	GRCh37
NC_000023.9:g.76716387C>A	NCBI36
NG_008838.2:g.216956G>T
NG_008838.3:g.217004G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6310G>T MANE Select	ENSP00000362441.4:p.Asp2104Tyr
ENST00000675732.1:c.1408G>T	ENSP00000502598.1:p.Asp470Tyr
ENST00000373344.9:c.6310G>T	ENSP00000362441.4:p.Asp2104Tyr
ENST00000395603.7:c.6196G>T	ENSP00000378967.3:p.Asp2066Tyr
ENST00000480283.5:c.*5938G>T	ENSP00000480196.1:n.*5938G>T
ENST00000623316.1:c.794G>T
ENST00000623706.3:n.3380G>T
NM_000489.4:c.6310G>T	NP_000480.3:p.Asp2104Tyr
NM_138270.3:c.6196G>T	NP_612114.2:p.Asp2066Tyr
XM_005262153.3:c.6307G>T	XP_005262210.2:p.Asp2103Tyr
XM_005262154.3:c.6223G>T	XP_005262211.2:p.Asp2075Tyr
XM_005262155.3:c.6193G>T	XP_005262212.2:p.Asp2065Tyr
XM_005262156.3:c.6145G>T	XP_005262213.2:p.Asp2049Tyr
XM_005262157.3:c.6106G>T	XP_005262214.2:p.Asp2036Tyr
XM_006724666.2:c.6193G>T	XP_006724729.1:p.Asp2065Tyr
XM_006724667.2:c.6031G>T	XP_006724730.1:p.Asp2011Tyr
XR_938400.1:n.6652G>T
NM_000489.5:c.6310G>T	NP_000480.3:p.Asp2104Tyr
XM_005262153.5:c.6307G>T	XP_005262210.2:p.Asp2103Tyr
XM_005262154.5:c.6223G>T	XP_005262211.2:p.Asp2075Tyr
XM_005262155.4:c.6193G>T	XP_005262212.2:p.Asp2065Tyr
XM_005262156.4:c.6145G>T	XP_005262213.2:p.Asp2049Tyr
XM_005262157.5:c.6106G>T	XP_005262214.2:p.Asp2036Tyr
XM_006724666.4:c.6193G>T	XP_006724729.1:p.Asp2065Tyr
XM_006724667.3:c.6031G>T	XP_006724730.1:p.Asp2011Tyr
XM_017029601.2:c.6220G>T	XP_016885090.1:p.Asp2074Tyr
XM_017029602.1:c.6190G>T	XP_016885091.1:p.Asp2064Tyr
XM_017029603.1:c.6142G>T	XP_016885092.1:p.Asp2048Tyr
XM_017029604.2:c.6109G>T	XP_016885093.1:p.Asp2037Tyr
XM_017029605.1:c.6106G>T	XP_016885094.1:p.Asp2036Tyr
XM_017029606.2:c.6079G>T	XP_016885095.1:p.Asp2027Tyr
XM_017029607.2:c.6076G>T	XP_016885096.1:p.Asp2026Tyr
XM_017029608.2:c.6028G>T	XP_016885097.1:p.Asp2010Tyr
XM_017029609.1:c.5992G>T	XP_016885098.1:p.Asp1998Tyr
XM_017029610.1:c.5989G>T	XP_016885099.1:p.Asp1997Tyr
XM_017029611.1:c.5944G>T	XP_016885100.1:p.Asp1982Tyr
XR_001755700.2:n.6609G>T
NM_138270.4:c.6196G>T	NP_612114.2:p.Asp2066Tyr
NM_000489.6:c.6310G>T MANE Select	NP_000480.3:p.Asp2104Tyr
NM_138270.5:c.6196G>T	NP_612114.2:p.Asp2066Tyr