Canonical Allele Identifier: CA517374063

Gene: ATRX

Linked Data

• dbSNP Id: rs2147647827
• MyVariant Identifiers: chrX:g.76763928A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508450A>G , CM000685.2:g.77508450A>G	GRCh38
NC_000023.10:g.76763928A>G , CM000685.1:g.76763928A>G	GRCh37
NC_000023.9:g.76650584A>G	NCBI36
NG_008838.2:g.282772T>C
NG_008838.3:g.282820T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7380T>C MANE Select	ENSP00000362441.4:p.Tyr2460=
ENST00000675732.1:c.2478T>C	ENSP00000502598.1:p.Tyr826=
ENST00000373344.9:c.7380T>C	ENSP00000362441.4:p.Tyr2460=
ENST00000395603.7:c.7266T>C	ENSP00000378967.3:p.Tyr2422=
ENST00000480283.5:c.*7008T>C	ENSP00000480196.1:n.*7008T>C
ENST00000623706.3:n.5700T>C
NM_000489.4:c.7380T>C	NP_000480.3:p.Tyr2460=
NM_138270.3:c.7266T>C	NP_612114.2:p.Tyr2422=
XM_005262153.3:c.7377T>C	XP_005262210.2:p.Tyr2459=
XM_005262154.3:c.7293T>C	XP_005262211.2:p.Tyr2431=
XM_005262155.3:c.7263T>C	XP_005262212.2:p.Tyr2421=
XM_005262156.3:c.7215T>C	XP_005262213.2:p.Tyr2405=
XM_005262157.3:c.7176T>C	XP_005262214.2:p.Tyr2392=
XM_006724666.2:c.7263T>C	XP_006724729.1:p.Tyr2421=
XM_006724667.2:c.7101T>C	XP_006724730.1:p.Tyr2367=
XR_938400.1:n.8972T>C
NM_000489.5:c.7380T>C	NP_000480.3:p.Tyr2460=
XM_005262153.5:c.7377T>C	XP_005262210.2:p.Tyr2459=
XM_005262154.5:c.7293T>C	XP_005262211.2:p.Tyr2431=
XM_005262155.4:c.7263T>C	XP_005262212.2:p.Tyr2421=
XM_005262156.4:c.7215T>C	XP_005262213.2:p.Tyr2405=
XM_005262157.5:c.7176T>C	XP_005262214.2:p.Tyr2392=
XM_006724666.4:c.7263T>C	XP_006724729.1:p.Tyr2421=
XM_006724667.3:c.7101T>C	XP_006724730.1:p.Tyr2367=
XM_017029601.2:c.7290T>C	XP_016885090.1:p.Tyr2430=
XM_017029602.1:c.7260T>C	XP_016885091.1:p.Tyr2420=
XM_017029603.1:c.7212T>C	XP_016885092.1:p.Tyr2404=
XM_017029604.2:c.7179T>C	XP_016885093.1:p.Tyr2393=
XM_017029605.1:c.7176T>C	XP_016885094.1:p.Tyr2392=
XM_017029606.2:c.7149T>C	XP_016885095.1:p.Tyr2383=
XM_017029607.2:c.7146T>C	XP_016885096.1:p.Tyr2382=
XM_017029608.2:c.7098T>C	XP_016885097.1:p.Tyr2366=
XM_017029609.1:c.7062T>C	XP_016885098.1:p.Tyr2354=
XM_017029610.1:c.7059T>C	XP_016885099.1:p.Tyr2353=
XM_017029611.1:c.7014T>C	XP_016885100.1:p.Tyr2338=
XR_001755700.2:n.7679T>C
NM_138270.4:c.7266T>C	NP_612114.2:p.Tyr2422=
NM_000489.6:c.7380T>C MANE Select	NP_000480.3:p.Tyr2460=
NM_138270.5:c.7266T>C	NP_612114.2:p.Tyr2422=