Canonical Allele Identifier: CA413703434

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763844T>G (hg19) ; chrX:g.77508366T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508366T>G , CM000685.2:g.77508366T>G	GRCh38
NC_000023.10:g.76763844T>G , CM000685.1:g.76763844T>G	GRCh37
NC_000023.9:g.76650500T>G	NCBI36
NG_008838.2:g.282856A>C
NG_008838.3:g.282904A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7464A>C MANE Select	ENSP00000362441.4:p.Gln2488His
ENST00000675732.1:c.2562A>C	ENSP00000502598.1:p.Gln854His
ENST00000373344.9:c.7464A>C	ENSP00000362441.4:p.Gln2488His
ENST00000395603.7:c.7350A>C	ENSP00000378967.3:p.Gln2450His
ENST00000480283.5:c.*7092A>C	ENSP00000480196.1:n.*7092A>C
ENST00000623706.3:n.5784A>C
NM_000489.4:c.7464A>C	NP_000480.3:p.Gln2488His
NM_138270.3:c.7350A>C	NP_612114.2:p.Gln2450His
XM_005262153.3:c.7461A>C	XP_005262210.2:p.Gln2487His
XM_005262154.3:c.7377A>C	XP_005262211.2:p.Gln2459His
XM_005262155.3:c.7347A>C	XP_005262212.2:p.Gln2449His
XM_005262156.3:c.7299A>C	XP_005262213.2:p.Gln2433His
XM_005262157.3:c.7260A>C	XP_005262214.2:p.Gln2420His
XM_006724666.2:c.7347A>C	XP_006724729.1:p.Gln2449His
XM_006724667.2:c.7185A>C	XP_006724730.1:p.Gln2395His
XR_938400.1:n.9056A>C
NM_000489.5:c.7464A>C	NP_000480.3:p.Gln2488His
XM_005262153.5:c.7461A>C	XP_005262210.2:p.Gln2487His
XM_005262154.5:c.7377A>C	XP_005262211.2:p.Gln2459His
XM_005262155.4:c.7347A>C	XP_005262212.2:p.Gln2449His
XM_005262156.4:c.7299A>C	XP_005262213.2:p.Gln2433His
XM_005262157.5:c.7260A>C	XP_005262214.2:p.Gln2420His
XM_006724666.4:c.7347A>C	XP_006724729.1:p.Gln2449His
XM_006724667.3:c.7185A>C	XP_006724730.1:p.Gln2395His
XM_017029601.2:c.7374A>C	XP_016885090.1:p.Gln2458His
XM_017029602.1:c.7344A>C	XP_016885091.1:p.Gln2448His
XM_017029603.1:c.7296A>C	XP_016885092.1:p.Gln2432His
XM_017029604.2:c.7263A>C	XP_016885093.1:p.Gln2421His
XM_017029605.1:c.7260A>C	XP_016885094.1:p.Gln2420His
XM_017029606.2:c.7233A>C	XP_016885095.1:p.Gln2411His
XM_017029607.2:c.7230A>C	XP_016885096.1:p.Gln2410His
XM_017029608.2:c.7182A>C	XP_016885097.1:p.Gln2394His
XM_017029609.1:c.7146A>C	XP_016885098.1:p.Gln2382His
XM_017029610.1:c.7143A>C	XP_016885099.1:p.Gln2381His
XM_017029611.1:c.7098A>C	XP_016885100.1:p.Gln2366His
XR_001755700.2:n.7763A>C
NM_138270.4:c.7350A>C	NP_612114.2:p.Gln2450His
NM_000489.6:c.7464A>C MANE Select	NP_000480.3:p.Gln2488His
NM_138270.5:c.7350A>C	NP_612114.2:p.Gln2450His