Canonical Allele Identifier: CA517374050

Gene: ATRX

Linked Data

• dbSNP Id: rs2147647535
• MyVariant Identifiers: chrX:g.76763916A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508438A>G , CM000685.2:g.77508438A>G	GRCh38
NC_000023.10:g.76763916A>G , CM000685.1:g.76763916A>G	GRCh37
NC_000023.9:g.76650572A>G	NCBI36
NG_008838.2:g.282784T>C
NG_008838.3:g.282832T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7392T>C MANE Select	ENSP00000362441.4:p.Ala2464=
ENST00000675732.1:c.2490T>C	ENSP00000502598.1:p.Ala830=
ENST00000373344.9:c.7392T>C	ENSP00000362441.4:p.Ala2464=
ENST00000395603.7:c.7278T>C	ENSP00000378967.3:p.Ala2426=
ENST00000480283.5:c.*7020T>C	ENSP00000480196.1:n.*7020T>C
ENST00000623706.3:n.5712T>C
NM_000489.4:c.7392T>C	NP_000480.3:p.Ala2464=
NM_138270.3:c.7278T>C	NP_612114.2:p.Ala2426=
XM_005262153.3:c.7389T>C	XP_005262210.2:p.Ala2463=
XM_005262154.3:c.7305T>C	XP_005262211.2:p.Ala2435=
XM_005262155.3:c.7275T>C	XP_005262212.2:p.Ala2425=
XM_005262156.3:c.7227T>C	XP_005262213.2:p.Ala2409=
XM_005262157.3:c.7188T>C	XP_005262214.2:p.Ala2396=
XM_006724666.2:c.7275T>C	XP_006724729.1:p.Ala2425=
XM_006724667.2:c.7113T>C	XP_006724730.1:p.Ala2371=
XR_938400.1:n.8984T>C
NM_000489.5:c.7392T>C	NP_000480.3:p.Ala2464=
XM_005262153.5:c.7389T>C	XP_005262210.2:p.Ala2463=
XM_005262154.5:c.7305T>C	XP_005262211.2:p.Ala2435=
XM_005262155.4:c.7275T>C	XP_005262212.2:p.Ala2425=
XM_005262156.4:c.7227T>C	XP_005262213.2:p.Ala2409=
XM_005262157.5:c.7188T>C	XP_005262214.2:p.Ala2396=
XM_006724666.4:c.7275T>C	XP_006724729.1:p.Ala2425=
XM_006724667.3:c.7113T>C	XP_006724730.1:p.Ala2371=
XM_017029601.2:c.7302T>C	XP_016885090.1:p.Ala2434=
XM_017029602.1:c.7272T>C	XP_016885091.1:p.Ala2424=
XM_017029603.1:c.7224T>C	XP_016885092.1:p.Ala2408=
XM_017029604.2:c.7191T>C	XP_016885093.1:p.Ala2397=
XM_017029605.1:c.7188T>C	XP_016885094.1:p.Ala2396=
XM_017029606.2:c.7161T>C	XP_016885095.1:p.Ala2387=
XM_017029607.2:c.7158T>C	XP_016885096.1:p.Ala2386=
XM_017029608.2:c.7110T>C	XP_016885097.1:p.Ala2370=
XM_017029609.1:c.7074T>C	XP_016885098.1:p.Ala2358=
XM_017029610.1:c.7071T>C	XP_016885099.1:p.Ala2357=
XM_017029611.1:c.7026T>C	XP_016885100.1:p.Ala2342=
XR_001755700.2:n.7691T>C
NM_138270.4:c.7278T>C	NP_612114.2:p.Ala2426=
NM_000489.6:c.7392T>C MANE Select	NP_000480.3:p.Ala2464=
NM_138270.5:c.7278T>C	NP_612114.2:p.Ala2426=