Canonical Allele Identifier: CA413704476

Gene: ATRX

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7319A>C MANE Select	ENSP00000362441.4:p.Lys2440Thr
ENST00000675732.1:c.2417A>C	ENSP00000502598.1:p.Lys806Thr
ENST00000373344.9:c.7319A>C	ENSP00000362441.4:p.Lys2440Thr
ENST00000395603.7:c.7205A>C	ENSP00000378967.3:p.Lys2402Thr
ENST00000480283.5:c.*6947A>C	ENSP00000480196.1:n.*6947A>C
ENST00000623706.3:n.5639A>C
ENST00000624766.1:n.550A>C
NM_000489.4:c.7319A>C	NP_000480.3:p.Lys2440Thr
NM_138270.3:c.7205A>C	NP_612114.2:p.Lys2402Thr
XM_005262153.3:c.7316A>C	XP_005262210.2:p.Lys2439Thr
XM_005262154.3:c.7232A>C	XP_005262211.2:p.Lys2411Thr
XM_005262155.3:c.7202A>C	XP_005262212.2:p.Lys2401Thr
XM_005262156.3:c.7154A>C	XP_005262213.2:p.Lys2385Thr
XM_005262157.3:c.7115A>C	XP_005262214.2:p.Lys2372Thr
XM_006724666.2:c.7202A>C	XP_006724729.1:p.Lys2401Thr
XM_006724667.2:c.7040A>C	XP_006724730.1:p.Lys2347Thr
XR_938400.1:n.8911A>C
NM_000489.5:c.7319A>C	NP_000480.3:p.Lys2440Thr
XM_005262153.5:c.7316A>C	XP_005262210.2:p.Lys2439Thr
XM_005262154.5:c.7232A>C	XP_005262211.2:p.Lys2411Thr
XM_005262155.4:c.7202A>C	XP_005262212.2:p.Lys2401Thr
XM_005262156.4:c.7154A>C	XP_005262213.2:p.Lys2385Thr
XM_005262157.5:c.7115A>C	XP_005262214.2:p.Lys2372Thr
XM_006724666.4:c.7202A>C	XP_006724729.1:p.Lys2401Thr
XM_006724667.3:c.7040A>C	XP_006724730.1:p.Lys2347Thr
XM_017029601.2:c.7229A>C	XP_016885090.1:p.Lys2410Thr
XM_017029602.1:c.7199A>C	XP_016885091.1:p.Lys2400Thr
XM_017029603.1:c.7151A>C	XP_016885092.1:p.Lys2384Thr
XM_017029604.2:c.7118A>C	XP_016885093.1:p.Lys2373Thr
XM_017029605.1:c.7115A>C	XP_016885094.1:p.Lys2372Thr
XM_017029606.2:c.7088A>C	XP_016885095.1:p.Lys2363Thr
XM_017029607.2:c.7085A>C	XP_016885096.1:p.Lys2362Thr
XM_017029608.2:c.7037A>C	XP_016885097.1:p.Lys2346Thr
XM_017029609.1:c.7001A>C	XP_016885098.1:p.Lys2334Thr
XM_017029610.1:c.6998A>C	XP_016885099.1:p.Lys2333Thr
XM_017029611.1:c.6953A>C	XP_016885100.1:p.Lys2318Thr
XR_001755700.2:n.7618A>C
NM_138270.4:c.7205A>C	NP_612114.2:p.Lys2402Thr
NM_000489.6:c.7319A>C MANE Select	NP_000480.3:p.Lys2440Thr
NM_138270.5:c.7205A>C	NP_612114.2:p.Lys2402Thr