Canonical Allele Identifier: CA413704720

Gene: ATRX

Linked Data

• dbSNP Id: rs2147650914
• MyVariant Identifiers: chrX:g.76764021T>A (hg19) ; chrX:g.77508543T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508543T>A , CM000685.2:g.77508543T>A	GRCh38
NC_000023.10:g.76764021T>A , CM000685.1:g.76764021T>A	GRCh37
NC_000023.9:g.76650677T>A	NCBI36
NG_008838.2:g.282679A>T
NG_008838.3:g.282727A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7287A>T MANE Select	ENSP00000362441.4:p.Gln2429His
ENST00000675732.1:c.2385A>T	ENSP00000502598.1:p.Gln795His
ENST00000373344.9:c.7287A>T	ENSP00000362441.4:p.Gln2429His
ENST00000395603.7:c.7173A>T	ENSP00000378967.3:p.Gln2391His
ENST00000480283.5:c.*6915A>T	ENSP00000480196.1:n.*6915A>T
ENST00000623706.3:n.5607A>T
ENST00000624766.1:n.518A>T
NM_000489.4:c.7287A>T	NP_000480.3:p.Gln2429His
NM_138270.3:c.7173A>T	NP_612114.2:p.Gln2391His
XM_005262153.3:c.7284A>T	XP_005262210.2:p.Gln2428His
XM_005262154.3:c.7200A>T	XP_005262211.2:p.Gln2400His
XM_005262155.3:c.7170A>T	XP_005262212.2:p.Gln2390His
XM_005262156.3:c.7122A>T	XP_005262213.2:p.Gln2374His
XM_005262157.3:c.7083A>T	XP_005262214.2:p.Gln2361His
XM_006724666.2:c.7170A>T	XP_006724729.1:p.Gln2390His
XM_006724667.2:c.7008A>T	XP_006724730.1:p.Gln2336His
XR_938400.1:n.8879A>T
NM_000489.5:c.7287A>T	NP_000480.3:p.Gln2429His
XM_005262153.5:c.7284A>T	XP_005262210.2:p.Gln2428His
XM_005262154.5:c.7200A>T	XP_005262211.2:p.Gln2400His
XM_005262155.4:c.7170A>T	XP_005262212.2:p.Gln2390His
XM_005262156.4:c.7122A>T	XP_005262213.2:p.Gln2374His
XM_005262157.5:c.7083A>T	XP_005262214.2:p.Gln2361His
XM_006724666.4:c.7170A>T	XP_006724729.1:p.Gln2390His
XM_006724667.3:c.7008A>T	XP_006724730.1:p.Gln2336His
XM_017029601.2:c.7197A>T	XP_016885090.1:p.Gln2399His
XM_017029602.1:c.7167A>T	XP_016885091.1:p.Gln2389His
XM_017029603.1:c.7119A>T	XP_016885092.1:p.Gln2373His
XM_017029604.2:c.7086A>T	XP_016885093.1:p.Gln2362His
XM_017029605.1:c.7083A>T	XP_016885094.1:p.Gln2361His
XM_017029606.2:c.7056A>T	XP_016885095.1:p.Gln2352His
XM_017029607.2:c.7053A>T	XP_016885096.1:p.Gln2351His
XM_017029608.2:c.7005A>T	XP_016885097.1:p.Gln2335His
XM_017029609.1:c.6969A>T	XP_016885098.1:p.Gln2323His
XM_017029610.1:c.6966A>T	XP_016885099.1:p.Gln2322His
XM_017029611.1:c.6921A>T	XP_016885100.1:p.Gln2307His
XR_001755700.2:n.7586A>T
NM_138270.4:c.7173A>T	NP_612114.2:p.Gln2391His
NM_000489.6:c.7287A>T MANE Select	NP_000480.3:p.Gln2429His
NM_138270.5:c.7173A>T	NP_612114.2:p.Gln2391His