Canonical Allele Identifier: CA517374178

Gene: ATRX

Linked Data

• dbSNP Id: rs2147651429
• COSMIC: COSM3096933 ; COSM3096934
• MyVariant Identifiers: chrX:g.76764039C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508561C>T , CM000685.2:g.77508561C>T	GRCh38
NC_000023.10:g.76764039C>T , CM000685.1:g.76764039C>T	GRCh37
NC_000023.9:g.76650695C>T	NCBI36
NG_008838.2:g.282661G>A
NG_008838.3:g.282709G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7269G>A MANE Select	ENSP00000362441.4:p.Gln2423=
ENST00000675732.1:c.2367G>A	ENSP00000502598.1:p.Gln789=
ENST00000373344.9:c.7269G>A	ENSP00000362441.4:p.Gln2423=
ENST00000395603.7:c.7155G>A	ENSP00000378967.3:p.Gln2385=
ENST00000480283.5:c.*6897G>A	ENSP00000480196.1:n.*6897G>A
ENST00000623706.3:n.5589G>A
ENST00000624766.1:n.500G>A
NM_000489.4:c.7269G>A	NP_000480.3:p.Gln2423=
NM_138270.3:c.7155G>A	NP_612114.2:p.Gln2385=
XM_005262153.3:c.7266G>A	XP_005262210.2:p.Gln2422=
XM_005262154.3:c.7182G>A	XP_005262211.2:p.Gln2394=
XM_005262155.3:c.7152G>A	XP_005262212.2:p.Gln2384=
XM_005262156.3:c.7104G>A	XP_005262213.2:p.Gln2368=
XM_005262157.3:c.7065G>A	XP_005262214.2:p.Gln2355=
XM_006724666.2:c.7152G>A	XP_006724729.1:p.Gln2384=
XM_006724667.2:c.6990G>A	XP_006724730.1:p.Gln2330=
XR_938400.1:n.8861G>A
NM_000489.5:c.7269G>A	NP_000480.3:p.Gln2423=
XM_005262153.5:c.7266G>A	XP_005262210.2:p.Gln2422=
XM_005262154.5:c.7182G>A	XP_005262211.2:p.Gln2394=
XM_005262155.4:c.7152G>A	XP_005262212.2:p.Gln2384=
XM_005262156.4:c.7104G>A	XP_005262213.2:p.Gln2368=
XM_005262157.5:c.7065G>A	XP_005262214.2:p.Gln2355=
XM_006724666.4:c.7152G>A	XP_006724729.1:p.Gln2384=
XM_006724667.3:c.6990G>A	XP_006724730.1:p.Gln2330=
XM_017029601.2:c.7179G>A	XP_016885090.1:p.Gln2393=
XM_017029602.1:c.7149G>A	XP_016885091.1:p.Gln2383=
XM_017029603.1:c.7101G>A	XP_016885092.1:p.Gln2367=
XM_017029604.2:c.7068G>A	XP_016885093.1:p.Gln2356=
XM_017029605.1:c.7065G>A	XP_016885094.1:p.Gln2355=
XM_017029606.2:c.7038G>A	XP_016885095.1:p.Gln2346=
XM_017029607.2:c.7035G>A	XP_016885096.1:p.Gln2345=
XM_017029608.2:c.6987G>A	XP_016885097.1:p.Gln2329=
XM_017029609.1:c.6951G>A	XP_016885098.1:p.Gln2317=
XM_017029610.1:c.6948G>A	XP_016885099.1:p.Gln2316=
XM_017029611.1:c.6903G>A	XP_016885100.1:p.Gln2301=
XR_001755700.2:n.7568G>A
NM_138270.4:c.7155G>A	NP_612114.2:p.Gln2385=
NM_000489.6:c.7269G>A MANE Select	NP_000480.3:p.Gln2423=
NM_138270.5:c.7155G>A	NP_612114.2:p.Gln2385=