Canonical Allele Identifier: CA517374160

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76764015T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508537T>G , CM000685.2:g.77508537T>G	GRCh38
NC_000023.10:g.76764015T>G , CM000685.1:g.76764015T>G	GRCh37
NC_000023.9:g.76650671T>G	NCBI36
NG_008838.2:g.282685A>C
NG_008838.3:g.282733A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7293A>C MANE Select	ENSP00000362441.4:p.Ala2431=
ENST00000675732.1:c.2391A>C	ENSP00000502598.1:p.Ala797=
ENST00000373344.9:c.7293A>C	ENSP00000362441.4:p.Ala2431=
ENST00000395603.7:c.7179A>C	ENSP00000378967.3:p.Ala2393=
ENST00000480283.5:c.*6921A>C	ENSP00000480196.1:n.*6921A>C
ENST00000623706.3:n.5613A>C
ENST00000624766.1:n.524A>C
NM_000489.4:c.7293A>C	NP_000480.3:p.Ala2431=
NM_138270.3:c.7179A>C	NP_612114.2:p.Ala2393=
XM_005262153.3:c.7290A>C	XP_005262210.2:p.Ala2430=
XM_005262154.3:c.7206A>C	XP_005262211.2:p.Ala2402=
XM_005262155.3:c.7176A>C	XP_005262212.2:p.Ala2392=
XM_005262156.3:c.7128A>C	XP_005262213.2:p.Ala2376=
XM_005262157.3:c.7089A>C	XP_005262214.2:p.Ala2363=
XM_006724666.2:c.7176A>C	XP_006724729.1:p.Ala2392=
XM_006724667.2:c.7014A>C	XP_006724730.1:p.Ala2338=
XR_938400.1:n.8885A>C
NM_000489.5:c.7293A>C	NP_000480.3:p.Ala2431=
XM_005262153.5:c.7290A>C	XP_005262210.2:p.Ala2430=
XM_005262154.5:c.7206A>C	XP_005262211.2:p.Ala2402=
XM_005262155.4:c.7176A>C	XP_005262212.2:p.Ala2392=
XM_005262156.4:c.7128A>C	XP_005262213.2:p.Ala2376=
XM_005262157.5:c.7089A>C	XP_005262214.2:p.Ala2363=
XM_006724666.4:c.7176A>C	XP_006724729.1:p.Ala2392=
XM_006724667.3:c.7014A>C	XP_006724730.1:p.Ala2338=
XM_017029601.2:c.7203A>C	XP_016885090.1:p.Ala2401=
XM_017029602.1:c.7173A>C	XP_016885091.1:p.Ala2391=
XM_017029603.1:c.7125A>C	XP_016885092.1:p.Ala2375=
XM_017029604.2:c.7092A>C	XP_016885093.1:p.Ala2364=
XM_017029605.1:c.7089A>C	XP_016885094.1:p.Ala2363=
XM_017029606.2:c.7062A>C	XP_016885095.1:p.Ala2354=
XM_017029607.2:c.7059A>C	XP_016885096.1:p.Ala2353=
XM_017029608.2:c.7011A>C	XP_016885097.1:p.Ala2337=
XM_017029609.1:c.6975A>C	XP_016885098.1:p.Ala2325=
XM_017029610.1:c.6972A>C	XP_016885099.1:p.Ala2324=
XM_017029611.1:c.6927A>C	XP_016885100.1:p.Ala2309=
XR_001755700.2:n.7592A>C
NM_138270.4:c.7179A>C	NP_612114.2:p.Ala2393=
NM_000489.6:c.7293A>C MANE Select	NP_000480.3:p.Ala2431=
NM_138270.5:c.7179A>C	NP_612114.2:p.Ala2393=