Canonical Allele Identifier: CA413704470

Gene: ATRX

Linked Data

• dbSNP Id: rs2147649886
• MyVariant Identifiers: chrX:g.76763989T>A (hg19) ; chrX:g.77508511T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508511T>A , CM000685.2:g.77508511T>A	GRCh38
NC_000023.10:g.76763989T>A , CM000685.1:g.76763989T>A	GRCh37
NC_000023.9:g.76650645T>A	NCBI36
NG_008838.2:g.282711A>T
NG_008838.3:g.282759A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7319A>T MANE Select	ENSP00000362441.4:p.Lys2440Met
ENST00000675732.1:c.2417A>T	ENSP00000502598.1:p.Lys806Met
ENST00000373344.9:c.7319A>T	ENSP00000362441.4:p.Lys2440Met
ENST00000395603.7:c.7205A>T	ENSP00000378967.3:p.Lys2402Met
ENST00000480283.5:c.*6947A>T	ENSP00000480196.1:n.*6947A>T
ENST00000623706.3:n.5639A>T
ENST00000624766.1:n.550A>T
NM_000489.4:c.7319A>T	NP_000480.3:p.Lys2440Met
NM_138270.3:c.7205A>T	NP_612114.2:p.Lys2402Met
XM_005262153.3:c.7316A>T	XP_005262210.2:p.Lys2439Met
XM_005262154.3:c.7232A>T	XP_005262211.2:p.Lys2411Met
XM_005262155.3:c.7202A>T	XP_005262212.2:p.Lys2401Met
XM_005262156.3:c.7154A>T	XP_005262213.2:p.Lys2385Met
XM_005262157.3:c.7115A>T	XP_005262214.2:p.Lys2372Met
XM_006724666.2:c.7202A>T	XP_006724729.1:p.Lys2401Met
XM_006724667.2:c.7040A>T	XP_006724730.1:p.Lys2347Met
XR_938400.1:n.8911A>T
NM_000489.5:c.7319A>T	NP_000480.3:p.Lys2440Met
XM_005262153.5:c.7316A>T	XP_005262210.2:p.Lys2439Met
XM_005262154.5:c.7232A>T	XP_005262211.2:p.Lys2411Met
XM_005262155.4:c.7202A>T	XP_005262212.2:p.Lys2401Met
XM_005262156.4:c.7154A>T	XP_005262213.2:p.Lys2385Met
XM_005262157.5:c.7115A>T	XP_005262214.2:p.Lys2372Met
XM_006724666.4:c.7202A>T	XP_006724729.1:p.Lys2401Met
XM_006724667.3:c.7040A>T	XP_006724730.1:p.Lys2347Met
XM_017029601.2:c.7229A>T	XP_016885090.1:p.Lys2410Met
XM_017029602.1:c.7199A>T	XP_016885091.1:p.Lys2400Met
XM_017029603.1:c.7151A>T	XP_016885092.1:p.Lys2384Met
XM_017029604.2:c.7118A>T	XP_016885093.1:p.Lys2373Met
XM_017029605.1:c.7115A>T	XP_016885094.1:p.Lys2372Met
XM_017029606.2:c.7088A>T	XP_016885095.1:p.Lys2363Met
XM_017029607.2:c.7085A>T	XP_016885096.1:p.Lys2362Met
XM_017029608.2:c.7037A>T	XP_016885097.1:p.Lys2346Met
XM_017029609.1:c.7001A>T	XP_016885098.1:p.Lys2334Met
XM_017029610.1:c.6998A>T	XP_016885099.1:p.Lys2333Met
XM_017029611.1:c.6953A>T	XP_016885100.1:p.Lys2318Met
XR_001755700.2:n.7618A>T
NM_138270.4:c.7205A>T	NP_612114.2:p.Lys2402Met
NM_000489.6:c.7319A>T MANE Select	NP_000480.3:p.Lys2440Met
NM_138270.5:c.7205A>T	NP_612114.2:p.Lys2402Met