Canonical Allele Identifier: CA413704755

Gene: ATRX

Linked Data

• dbSNP Id: rs2147651041
• MyVariant Identifiers: chrX:g.76764025T>A (hg19) ; chrX:g.77508547T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508547T>A , CM000685.2:g.77508547T>A	GRCh38
NC_000023.10:g.76764025T>A , CM000685.1:g.76764025T>A	GRCh37
NC_000023.9:g.76650681T>A	NCBI36
NG_008838.2:g.282675A>T
NG_008838.3:g.282723A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7283A>T MANE Select	ENSP00000362441.4:p.Tyr2428Phe
ENST00000675732.1:c.2381A>T	ENSP00000502598.1:p.Tyr794Phe
ENST00000373344.9:c.7283A>T	ENSP00000362441.4:p.Tyr2428Phe
ENST00000395603.7:c.7169A>T	ENSP00000378967.3:p.Tyr2390Phe
ENST00000480283.5:c.*6911A>T	ENSP00000480196.1:n.*6911A>T
ENST00000623706.3:n.5603A>T
ENST00000624766.1:n.514A>T
NM_000489.4:c.7283A>T	NP_000480.3:p.Tyr2428Phe
NM_138270.3:c.7169A>T	NP_612114.2:p.Tyr2390Phe
XM_005262153.3:c.7280A>T	XP_005262210.2:p.Tyr2427Phe
XM_005262154.3:c.7196A>T	XP_005262211.2:p.Tyr2399Phe
XM_005262155.3:c.7166A>T	XP_005262212.2:p.Tyr2389Phe
XM_005262156.3:c.7118A>T	XP_005262213.2:p.Tyr2373Phe
XM_005262157.3:c.7079A>T	XP_005262214.2:p.Tyr2360Phe
XM_006724666.2:c.7166A>T	XP_006724729.1:p.Tyr2389Phe
XM_006724667.2:c.7004A>T	XP_006724730.1:p.Tyr2335Phe
XR_938400.1:n.8875A>T
NM_000489.5:c.7283A>T	NP_000480.3:p.Tyr2428Phe
XM_005262153.5:c.7280A>T	XP_005262210.2:p.Tyr2427Phe
XM_005262154.5:c.7196A>T	XP_005262211.2:p.Tyr2399Phe
XM_005262155.4:c.7166A>T	XP_005262212.2:p.Tyr2389Phe
XM_005262156.4:c.7118A>T	XP_005262213.2:p.Tyr2373Phe
XM_005262157.5:c.7079A>T	XP_005262214.2:p.Tyr2360Phe
XM_006724666.4:c.7166A>T	XP_006724729.1:p.Tyr2389Phe
XM_006724667.3:c.7004A>T	XP_006724730.1:p.Tyr2335Phe
XM_017029601.2:c.7193A>T	XP_016885090.1:p.Tyr2398Phe
XM_017029602.1:c.7163A>T	XP_016885091.1:p.Tyr2388Phe
XM_017029603.1:c.7115A>T	XP_016885092.1:p.Tyr2372Phe
XM_017029604.2:c.7082A>T	XP_016885093.1:p.Tyr2361Phe
XM_017029605.1:c.7079A>T	XP_016885094.1:p.Tyr2360Phe
XM_017029606.2:c.7052A>T	XP_016885095.1:p.Tyr2351Phe
XM_017029607.2:c.7049A>T	XP_016885096.1:p.Tyr2350Phe
XM_017029608.2:c.7001A>T	XP_016885097.1:p.Tyr2334Phe
XM_017029609.1:c.6965A>T	XP_016885098.1:p.Tyr2322Phe
XM_017029610.1:c.6962A>T	XP_016885099.1:p.Tyr2321Phe
XM_017029611.1:c.6917A>T	XP_016885100.1:p.Tyr2306Phe
XR_001755700.2:n.7582A>T
NM_138270.4:c.7169A>T	NP_612114.2:p.Tyr2390Phe
NM_000489.6:c.7283A>T MANE Select	NP_000480.3:p.Tyr2428Phe
NM_138270.5:c.7169A>T	NP_612114.2:p.Tyr2390Phe