Canonical Allele Identifier: CA413704533

Gene: ATRX

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7313T>C MANE Select	ENSP00000362441.4:p.Met2438Thr
ENST00000675732.1:c.2411T>C	ENSP00000502598.1:p.Met804Thr
ENST00000373344.9:c.7313T>C	ENSP00000362441.4:p.Met2438Thr
ENST00000395603.7:c.7199T>C	ENSP00000378967.3:p.Met2400Thr
ENST00000480283.5:c.*6941T>C	ENSP00000480196.1:n.*6941T>C
ENST00000623706.3:n.5633T>C
ENST00000624766.1:n.544T>C
NM_000489.4:c.7313T>C	NP_000480.3:p.Met2438Thr
NM_138270.3:c.7199T>C	NP_612114.2:p.Met2400Thr
XM_005262153.3:c.7310T>C	XP_005262210.2:p.Met2437Thr
XM_005262154.3:c.7226T>C	XP_005262211.2:p.Met2409Thr
XM_005262155.3:c.7196T>C	XP_005262212.2:p.Met2399Thr
XM_005262156.3:c.7148T>C	XP_005262213.2:p.Met2383Thr
XM_005262157.3:c.7109T>C	XP_005262214.2:p.Met2370Thr
XM_006724666.2:c.7196T>C	XP_006724729.1:p.Met2399Thr
XM_006724667.2:c.7034T>C	XP_006724730.1:p.Met2345Thr
XR_938400.1:n.8905T>C
NM_000489.5:c.7313T>C	NP_000480.3:p.Met2438Thr
XM_005262153.5:c.7310T>C	XP_005262210.2:p.Met2437Thr
XM_005262154.5:c.7226T>C	XP_005262211.2:p.Met2409Thr
XM_005262155.4:c.7196T>C	XP_005262212.2:p.Met2399Thr
XM_005262156.4:c.7148T>C	XP_005262213.2:p.Met2383Thr
XM_005262157.5:c.7109T>C	XP_005262214.2:p.Met2370Thr
XM_006724666.4:c.7196T>C	XP_006724729.1:p.Met2399Thr
XM_006724667.3:c.7034T>C	XP_006724730.1:p.Met2345Thr
XM_017029601.2:c.7223T>C	XP_016885090.1:p.Met2408Thr
XM_017029602.1:c.7193T>C	XP_016885091.1:p.Met2398Thr
XM_017029603.1:c.7145T>C	XP_016885092.1:p.Met2382Thr
XM_017029604.2:c.7112T>C	XP_016885093.1:p.Met2371Thr
XM_017029605.1:c.7109T>C	XP_016885094.1:p.Met2370Thr
XM_017029606.2:c.7082T>C	XP_016885095.1:p.Met2361Thr
XM_017029607.2:c.7079T>C	XP_016885096.1:p.Met2360Thr
XM_017029608.2:c.7031T>C	XP_016885097.1:p.Met2344Thr
XM_017029609.1:c.6995T>C	XP_016885098.1:p.Met2332Thr
XM_017029610.1:c.6992T>C	XP_016885099.1:p.Met2331Thr
XM_017029611.1:c.6947T>C	XP_016885100.1:p.Met2316Thr
XR_001755700.2:n.7612T>C
NM_138270.4:c.7199T>C	NP_612114.2:p.Met2400Thr
NM_000489.6:c.7313T>C MANE Select	NP_000480.3:p.Met2438Thr
NM_138270.5:c.7199T>C	NP_612114.2:p.Met2400Thr