Canonical Allele Identifier: CA517374386
Gene: ATRX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.76776308T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77520830T>G , CM000685.2:g.77520830T>G GRCh38
NC_000023.10:g.76776308T>G , CM000685.1:g.76776308T>G GRCh37
NC_000023.9:g.76662964T>G NCBI36
NG_008838.2:g.270392A>C
NG_008838.3:g.270440A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7158A>C MANE Select ENSP00000362441.4:p.Arg2386=
ENST00000675732.1:c.2256A>C ENSP00000502598.1:p.Arg752=
ENST00000373344.9:c.7158A>C ENSP00000362441.4:p.Arg2386=
ENST00000395603.7:c.7044A>C ENSP00000378967.3:p.Arg2348=
ENST00000480283.5:c.*6786A>C ENSP00000480196.1:n.*6786A>C
ENST00000623706.3:n.5478A>C
ENST00000624766.1:n.389A>C
NM_000489.4:c.7158A>C NP_000480.3:p.Arg2386=
NM_138270.3:c.7044A>C NP_612114.2:p.Arg2348=
XM_005262153.3:c.7155A>C XP_005262210.2:p.Arg2385=
XM_005262154.3:c.7071A>C XP_005262211.2:p.Arg2357=
XM_005262155.3:c.7041A>C XP_005262212.2:p.Arg2347=
XM_005262156.3:c.6993A>C XP_005262213.2:p.Arg2331=
XM_005262157.3:c.6954A>C XP_005262214.2:p.Arg2318=
XM_006724666.2:c.7041A>C XP_006724729.1:p.Arg2347=
XM_006724667.2:c.6879A>C XP_006724730.1:p.Arg2293=
XR_938400.1:n.8750A>C
NM_000489.5:c.7158A>C NP_000480.3:p.Arg2386=
XM_005262153.5:c.7155A>C XP_005262210.2:p.Arg2385=
XM_005262154.5:c.7071A>C XP_005262211.2:p.Arg2357=
XM_005262155.4:c.7041A>C XP_005262212.2:p.Arg2347=
XM_005262156.4:c.6993A>C XP_005262213.2:p.Arg2331=
XM_005262157.5:c.6954A>C XP_005262214.2:p.Arg2318=
XM_006724666.4:c.7041A>C XP_006724729.1:p.Arg2347=
XM_006724667.3:c.6879A>C XP_006724730.1:p.Arg2293=
XM_017029601.2:c.7068A>C XP_016885090.1:p.Arg2356=
XM_017029602.1:c.7038A>C XP_016885091.1:p.Arg2346=
XM_017029603.1:c.6990A>C XP_016885092.1:p.Arg2330=
XM_017029604.2:c.6957A>C XP_016885093.1:p.Arg2319=
XM_017029605.1:c.6954A>C XP_016885094.1:p.Arg2318=
XM_017029606.2:c.6927A>C XP_016885095.1:p.Arg2309=
XM_017029607.2:c.6924A>C XP_016885096.1:p.Arg2308=
XM_017029608.2:c.6876A>C XP_016885097.1:p.Arg2292=
XM_017029609.1:c.6840A>C XP_016885098.1:p.Arg2280=
XM_017029610.1:c.6837A>C XP_016885099.1:p.Arg2279=
XM_017029611.1:c.6792A>C XP_016885100.1:p.Arg2264=
XR_001755700.2:n.7457A>C
NM_138270.4:c.7044A>C NP_612114.2:p.Arg2348=
NM_000489.6:c.7158A>C MANE Select NP_000480.3:p.Arg2386=
NM_138270.5:c.7044A>C NP_612114.2:p.Arg2348=