Canonical Allele Identifier: CA413704674

Gene: ATRX

Linked Data

• dbSNP Id: rs2147650821
• MyVariant Identifiers: chrX:g.76764016G>A (hg19) ; chrX:g.77508538G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508538G>A , CM000685.2:g.77508538G>A	GRCh38
NC_000023.10:g.76764016G>A , CM000685.1:g.76764016G>A	GRCh37
NC_000023.9:g.76650672G>A	NCBI36
NG_008838.2:g.282684C>T
NG_008838.3:g.282732C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7292C>T MANE Select	ENSP00000362441.4:p.Ala2431Val
ENST00000675732.1:c.2390C>T	ENSP00000502598.1:p.Ala797Val
ENST00000373344.9:c.7292C>T	ENSP00000362441.4:p.Ala2431Val
ENST00000395603.7:c.7178C>T	ENSP00000378967.3:p.Ala2393Val
ENST00000480283.5:c.*6920C>T	ENSP00000480196.1:n.*6920C>T
ENST00000623706.3:n.5612C>T
ENST00000624766.1:n.523C>T
NM_000489.4:c.7292C>T	NP_000480.3:p.Ala2431Val
NM_138270.3:c.7178C>T	NP_612114.2:p.Ala2393Val
XM_005262153.3:c.7289C>T	XP_005262210.2:p.Ala2430Val
XM_005262154.3:c.7205C>T	XP_005262211.2:p.Ala2402Val
XM_005262155.3:c.7175C>T	XP_005262212.2:p.Ala2392Val
XM_005262156.3:c.7127C>T	XP_005262213.2:p.Ala2376Val
XM_005262157.3:c.7088C>T	XP_005262214.2:p.Ala2363Val
XM_006724666.2:c.7175C>T	XP_006724729.1:p.Ala2392Val
XM_006724667.2:c.7013C>T	XP_006724730.1:p.Ala2338Val
XR_938400.1:n.8884C>T
NM_000489.5:c.7292C>T	NP_000480.3:p.Ala2431Val
XM_005262153.5:c.7289C>T	XP_005262210.2:p.Ala2430Val
XM_005262154.5:c.7205C>T	XP_005262211.2:p.Ala2402Val
XM_005262155.4:c.7175C>T	XP_005262212.2:p.Ala2392Val
XM_005262156.4:c.7127C>T	XP_005262213.2:p.Ala2376Val
XM_005262157.5:c.7088C>T	XP_005262214.2:p.Ala2363Val
XM_006724666.4:c.7175C>T	XP_006724729.1:p.Ala2392Val
XM_006724667.3:c.7013C>T	XP_006724730.1:p.Ala2338Val
XM_017029601.2:c.7202C>T	XP_016885090.1:p.Ala2401Val
XM_017029602.1:c.7172C>T	XP_016885091.1:p.Ala2391Val
XM_017029603.1:c.7124C>T	XP_016885092.1:p.Ala2375Val
XM_017029604.2:c.7091C>T	XP_016885093.1:p.Ala2364Val
XM_017029605.1:c.7088C>T	XP_016885094.1:p.Ala2363Val
XM_017029606.2:c.7061C>T	XP_016885095.1:p.Ala2354Val
XM_017029607.2:c.7058C>T	XP_016885096.1:p.Ala2353Val
XM_017029608.2:c.7010C>T	XP_016885097.1:p.Ala2337Val
XM_017029609.1:c.6974C>T	XP_016885098.1:p.Ala2325Val
XM_017029610.1:c.6971C>T	XP_016885099.1:p.Ala2324Val
XM_017029611.1:c.6926C>T	XP_016885100.1:p.Ala2309Val
XR_001755700.2:n.7591C>T
NM_138270.4:c.7178C>T	NP_612114.2:p.Ala2393Val
NM_000489.6:c.7292C>T MANE Select	NP_000480.3:p.Ala2431Val
NM_138270.5:c.7178C>T	NP_612114.2:p.Ala2393Val