Canonical Allele Identifier: CA413704728

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76764022T>C (hg19) ; chrX:g.77508544T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508544T>C , CM000685.2:g.77508544T>C	GRCh38
NC_000023.10:g.76764022T>C , CM000685.1:g.76764022T>C	GRCh37
NC_000023.9:g.76650678T>C	NCBI36
NG_008838.2:g.282678A>G
NG_008838.3:g.282726A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7286A>G MANE Select	ENSP00000362441.4:p.Gln2429Arg
ENST00000675732.1:c.2384A>G	ENSP00000502598.1:p.Gln795Arg
ENST00000373344.9:c.7286A>G	ENSP00000362441.4:p.Gln2429Arg
ENST00000395603.7:c.7172A>G	ENSP00000378967.3:p.Gln2391Arg
ENST00000480283.5:c.*6914A>G	ENSP00000480196.1:n.*6914A>G
ENST00000623706.3:n.5606A>G
ENST00000624766.1:n.517A>G
NM_000489.4:c.7286A>G	NP_000480.3:p.Gln2429Arg
NM_138270.3:c.7172A>G	NP_612114.2:p.Gln2391Arg
XM_005262153.3:c.7283A>G	XP_005262210.2:p.Gln2428Arg
XM_005262154.3:c.7199A>G	XP_005262211.2:p.Gln2400Arg
XM_005262155.3:c.7169A>G	XP_005262212.2:p.Gln2390Arg
XM_005262156.3:c.7121A>G	XP_005262213.2:p.Gln2374Arg
XM_005262157.3:c.7082A>G	XP_005262214.2:p.Gln2361Arg
XM_006724666.2:c.7169A>G	XP_006724729.1:p.Gln2390Arg
XM_006724667.2:c.7007A>G	XP_006724730.1:p.Gln2336Arg
XR_938400.1:n.8878A>G
NM_000489.5:c.7286A>G	NP_000480.3:p.Gln2429Arg
XM_005262153.5:c.7283A>G	XP_005262210.2:p.Gln2428Arg
XM_005262154.5:c.7199A>G	XP_005262211.2:p.Gln2400Arg
XM_005262155.4:c.7169A>G	XP_005262212.2:p.Gln2390Arg
XM_005262156.4:c.7121A>G	XP_005262213.2:p.Gln2374Arg
XM_005262157.5:c.7082A>G	XP_005262214.2:p.Gln2361Arg
XM_006724666.4:c.7169A>G	XP_006724729.1:p.Gln2390Arg
XM_006724667.3:c.7007A>G	XP_006724730.1:p.Gln2336Arg
XM_017029601.2:c.7196A>G	XP_016885090.1:p.Gln2399Arg
XM_017029602.1:c.7166A>G	XP_016885091.1:p.Gln2389Arg
XM_017029603.1:c.7118A>G	XP_016885092.1:p.Gln2373Arg
XM_017029604.2:c.7085A>G	XP_016885093.1:p.Gln2362Arg
XM_017029605.1:c.7082A>G	XP_016885094.1:p.Gln2361Arg
XM_017029606.2:c.7055A>G	XP_016885095.1:p.Gln2352Arg
XM_017029607.2:c.7052A>G	XP_016885096.1:p.Gln2351Arg
XM_017029608.2:c.7004A>G	XP_016885097.1:p.Gln2335Arg
XM_017029609.1:c.6968A>G	XP_016885098.1:p.Gln2323Arg
XM_017029610.1:c.6965A>G	XP_016885099.1:p.Gln2322Arg
XM_017029611.1:c.6920A>G	XP_016885100.1:p.Gln2307Arg
XR_001755700.2:n.7585A>G
NM_138270.4:c.7172A>G	NP_612114.2:p.Gln2391Arg
NM_000489.6:c.7286A>G MANE Select	NP_000480.3:p.Gln2429Arg
NM_138270.5:c.7172A>G	NP_612114.2:p.Gln2391Arg