Canonical Allele Identifier: CA413707135

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776315A>G (hg19) ; chrX:g.77520837A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520837A>G , CM000685.2:g.77520837A>G	GRCh38
NC_000023.10:g.76776315A>G , CM000685.1:g.76776315A>G	GRCh37
NC_000023.9:g.76662971A>G	NCBI36
NG_008838.2:g.270385T>C
NG_008838.3:g.270433T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7151T>C MANE Select	ENSP00000362441.4:p.Val2384Ala
ENST00000675732.1:c.2249T>C	ENSP00000502598.1:p.Val750Ala
ENST00000373344.9:c.7151T>C	ENSP00000362441.4:p.Val2384Ala
ENST00000395603.7:c.7037T>C	ENSP00000378967.3:p.Val2346Ala
ENST00000480283.5:c.*6779T>C	ENSP00000480196.1:n.*6779T>C
ENST00000623706.3:n.5471T>C
ENST00000624766.1:n.382T>C
NM_000489.4:c.7151T>C	NP_000480.3:p.Val2384Ala
NM_138270.3:c.7037T>C	NP_612114.2:p.Val2346Ala
XM_005262153.3:c.7148T>C	XP_005262210.2:p.Val2383Ala
XM_005262154.3:c.7064T>C	XP_005262211.2:p.Val2355Ala
XM_005262155.3:c.7034T>C	XP_005262212.2:p.Val2345Ala
XM_005262156.3:c.6986T>C	XP_005262213.2:p.Val2329Ala
XM_005262157.3:c.6947T>C	XP_005262214.2:p.Val2316Ala
XM_006724666.2:c.7034T>C	XP_006724729.1:p.Val2345Ala
XM_006724667.2:c.6872T>C	XP_006724730.1:p.Val2291Ala
XR_938400.1:n.8743T>C
NM_000489.5:c.7151T>C	NP_000480.3:p.Val2384Ala
XM_005262153.5:c.7148T>C	XP_005262210.2:p.Val2383Ala
XM_005262154.5:c.7064T>C	XP_005262211.2:p.Val2355Ala
XM_005262155.4:c.7034T>C	XP_005262212.2:p.Val2345Ala
XM_005262156.4:c.6986T>C	XP_005262213.2:p.Val2329Ala
XM_005262157.5:c.6947T>C	XP_005262214.2:p.Val2316Ala
XM_006724666.4:c.7034T>C	XP_006724729.1:p.Val2345Ala
XM_006724667.3:c.6872T>C	XP_006724730.1:p.Val2291Ala
XM_017029601.2:c.7061T>C	XP_016885090.1:p.Val2354Ala
XM_017029602.1:c.7031T>C	XP_016885091.1:p.Val2344Ala
XM_017029603.1:c.6983T>C	XP_016885092.1:p.Val2328Ala
XM_017029604.2:c.6950T>C	XP_016885093.1:p.Val2317Ala
XM_017029605.1:c.6947T>C	XP_016885094.1:p.Val2316Ala
XM_017029606.2:c.6920T>C	XP_016885095.1:p.Val2307Ala
XM_017029607.2:c.6917T>C	XP_016885096.1:p.Val2306Ala
XM_017029608.2:c.6869T>C	XP_016885097.1:p.Val2290Ala
XM_017029609.1:c.6833T>C	XP_016885098.1:p.Val2278Ala
XM_017029610.1:c.6830T>C	XP_016885099.1:p.Val2277Ala
XM_017029611.1:c.6785T>C	XP_016885100.1:p.Val2262Ala
XR_001755700.2:n.7450T>C
NM_138270.4:c.7037T>C	NP_612114.2:p.Val2346Ala
NM_000489.6:c.7151T>C MANE Select	NP_000480.3:p.Val2384Ala
NM_138270.5:c.7037T>C	NP_612114.2:p.Val2346Ala