Canonical Allele Identifier: CA413703439

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763845T>C (hg19) ; chrX:g.77508367T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508367T>C , CM000685.2:g.77508367T>C	GRCh38
NC_000023.10:g.76763845T>C , CM000685.1:g.76763845T>C	GRCh37
NC_000023.9:g.76650501T>C	NCBI36
NG_008838.2:g.282855A>G
NG_008838.3:g.282903A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7463A>G MANE Select	ENSP00000362441.4:p.Gln2488Arg
ENST00000675732.1:c.2561A>G	ENSP00000502598.1:p.Gln854Arg
ENST00000373344.9:c.7463A>G	ENSP00000362441.4:p.Gln2488Arg
ENST00000395603.7:c.7349A>G	ENSP00000378967.3:p.Gln2450Arg
ENST00000480283.5:c.*7091A>G	ENSP00000480196.1:n.*7091A>G
ENST00000623706.3:n.5783A>G
NM_000489.4:c.7463A>G	NP_000480.3:p.Gln2488Arg
NM_138270.3:c.7349A>G	NP_612114.2:p.Gln2450Arg
XM_005262153.3:c.7460A>G	XP_005262210.2:p.Gln2487Arg
XM_005262154.3:c.7376A>G	XP_005262211.2:p.Gln2459Arg
XM_005262155.3:c.7346A>G	XP_005262212.2:p.Gln2449Arg
XM_005262156.3:c.7298A>G	XP_005262213.2:p.Gln2433Arg
XM_005262157.3:c.7259A>G	XP_005262214.2:p.Gln2420Arg
XM_006724666.2:c.7346A>G	XP_006724729.1:p.Gln2449Arg
XM_006724667.2:c.7184A>G	XP_006724730.1:p.Gln2395Arg
XR_938400.1:n.9055A>G
NM_000489.5:c.7463A>G	NP_000480.3:p.Gln2488Arg
XM_005262153.5:c.7460A>G	XP_005262210.2:p.Gln2487Arg
XM_005262154.5:c.7376A>G	XP_005262211.2:p.Gln2459Arg
XM_005262155.4:c.7346A>G	XP_005262212.2:p.Gln2449Arg
XM_005262156.4:c.7298A>G	XP_005262213.2:p.Gln2433Arg
XM_005262157.5:c.7259A>G	XP_005262214.2:p.Gln2420Arg
XM_006724666.4:c.7346A>G	XP_006724729.1:p.Gln2449Arg
XM_006724667.3:c.7184A>G	XP_006724730.1:p.Gln2395Arg
XM_017029601.2:c.7373A>G	XP_016885090.1:p.Gln2458Arg
XM_017029602.1:c.7343A>G	XP_016885091.1:p.Gln2448Arg
XM_017029603.1:c.7295A>G	XP_016885092.1:p.Gln2432Arg
XM_017029604.2:c.7262A>G	XP_016885093.1:p.Gln2421Arg
XM_017029605.1:c.7259A>G	XP_016885094.1:p.Gln2420Arg
XM_017029606.2:c.7232A>G	XP_016885095.1:p.Gln2411Arg
XM_017029607.2:c.7229A>G	XP_016885096.1:p.Gln2410Arg
XM_017029608.2:c.7181A>G	XP_016885097.1:p.Gln2394Arg
XM_017029609.1:c.7145A>G	XP_016885098.1:p.Gln2382Arg
XM_017029610.1:c.7142A>G	XP_016885099.1:p.Gln2381Arg
XM_017029611.1:c.7097A>G	XP_016885100.1:p.Gln2366Arg
XR_001755700.2:n.7762A>G
NM_138270.4:c.7349A>G	NP_612114.2:p.Gln2450Arg
NM_000489.6:c.7463A>G MANE Select	NP_000480.3:p.Gln2488Arg
NM_138270.5:c.7349A>G	NP_612114.2:p.Gln2450Arg