Canonical Allele Identifier: CA413704532

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763995A>C (hg19) ; chrX:g.77508517A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508517A>C , CM000685.2:g.77508517A>C	GRCh38
NC_000023.10:g.76763995A>C , CM000685.1:g.76763995A>C	GRCh37
NC_000023.9:g.76650651A>C	NCBI36
NG_008838.2:g.282705T>G
NG_008838.3:g.282753T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7313T>G MANE Select	ENSP00000362441.4:p.Met2438Arg
ENST00000675732.1:c.2411T>G	ENSP00000502598.1:p.Met804Arg
ENST00000373344.9:c.7313T>G	ENSP00000362441.4:p.Met2438Arg
ENST00000395603.7:c.7199T>G	ENSP00000378967.3:p.Met2400Arg
ENST00000480283.5:c.*6941T>G	ENSP00000480196.1:n.*6941T>G
ENST00000623706.3:n.5633T>G
ENST00000624766.1:n.544T>G
NM_000489.4:c.7313T>G	NP_000480.3:p.Met2438Arg
NM_138270.3:c.7199T>G	NP_612114.2:p.Met2400Arg
XM_005262153.3:c.7310T>G	XP_005262210.2:p.Met2437Arg
XM_005262154.3:c.7226T>G	XP_005262211.2:p.Met2409Arg
XM_005262155.3:c.7196T>G	XP_005262212.2:p.Met2399Arg
XM_005262156.3:c.7148T>G	XP_005262213.2:p.Met2383Arg
XM_005262157.3:c.7109T>G	XP_005262214.2:p.Met2370Arg
XM_006724666.2:c.7196T>G	XP_006724729.1:p.Met2399Arg
XM_006724667.2:c.7034T>G	XP_006724730.1:p.Met2345Arg
XR_938400.1:n.8905T>G
NM_000489.5:c.7313T>G	NP_000480.3:p.Met2438Arg
XM_005262153.5:c.7310T>G	XP_005262210.2:p.Met2437Arg
XM_005262154.5:c.7226T>G	XP_005262211.2:p.Met2409Arg
XM_005262155.4:c.7196T>G	XP_005262212.2:p.Met2399Arg
XM_005262156.4:c.7148T>G	XP_005262213.2:p.Met2383Arg
XM_005262157.5:c.7109T>G	XP_005262214.2:p.Met2370Arg
XM_006724666.4:c.7196T>G	XP_006724729.1:p.Met2399Arg
XM_006724667.3:c.7034T>G	XP_006724730.1:p.Met2345Arg
XM_017029601.2:c.7223T>G	XP_016885090.1:p.Met2408Arg
XM_017029602.1:c.7193T>G	XP_016885091.1:p.Met2398Arg
XM_017029603.1:c.7145T>G	XP_016885092.1:p.Met2382Arg
XM_017029604.2:c.7112T>G	XP_016885093.1:p.Met2371Arg
XM_017029605.1:c.7109T>G	XP_016885094.1:p.Met2370Arg
XM_017029606.2:c.7082T>G	XP_016885095.1:p.Met2361Arg
XM_017029607.2:c.7079T>G	XP_016885096.1:p.Met2360Arg
XM_017029608.2:c.7031T>G	XP_016885097.1:p.Met2344Arg
XM_017029609.1:c.6995T>G	XP_016885098.1:p.Met2332Arg
XM_017029610.1:c.6992T>G	XP_016885099.1:p.Met2331Arg
XM_017029611.1:c.6947T>G	XP_016885100.1:p.Met2316Arg
XR_001755700.2:n.7612T>G
NM_138270.4:c.7199T>G	NP_612114.2:p.Met2400Arg
NM_000489.6:c.7313T>G MANE Select	NP_000480.3:p.Met2438Arg
NM_138270.5:c.7199T>G	NP_612114.2:p.Met2400Arg