Canonical Allele Identifier: CA413707137

Gene: ATRX

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7151T>G MANE Select	ENSP00000362441.4:p.Val2384Gly
ENST00000675732.1:c.2249T>G	ENSP00000502598.1:p.Val750Gly
ENST00000373344.9:c.7151T>G	ENSP00000362441.4:p.Val2384Gly
ENST00000395603.7:c.7037T>G	ENSP00000378967.3:p.Val2346Gly
ENST00000480283.5:c.*6779T>G	ENSP00000480196.1:n.*6779T>G
ENST00000623706.3:n.5471T>G
ENST00000624766.1:n.382T>G
NM_000489.4:c.7151T>G	NP_000480.3:p.Val2384Gly
NM_138270.3:c.7037T>G	NP_612114.2:p.Val2346Gly
XM_005262153.3:c.7148T>G	XP_005262210.2:p.Val2383Gly
XM_005262154.3:c.7064T>G	XP_005262211.2:p.Val2355Gly
XM_005262155.3:c.7034T>G	XP_005262212.2:p.Val2345Gly
XM_005262156.3:c.6986T>G	XP_005262213.2:p.Val2329Gly
XM_005262157.3:c.6947T>G	XP_005262214.2:p.Val2316Gly
XM_006724666.2:c.7034T>G	XP_006724729.1:p.Val2345Gly
XM_006724667.2:c.6872T>G	XP_006724730.1:p.Val2291Gly
XR_938400.1:n.8743T>G
NM_000489.5:c.7151T>G	NP_000480.3:p.Val2384Gly
XM_005262153.5:c.7148T>G	XP_005262210.2:p.Val2383Gly
XM_005262154.5:c.7064T>G	XP_005262211.2:p.Val2355Gly
XM_005262155.4:c.7034T>G	XP_005262212.2:p.Val2345Gly
XM_005262156.4:c.6986T>G	XP_005262213.2:p.Val2329Gly
XM_005262157.5:c.6947T>G	XP_005262214.2:p.Val2316Gly
XM_006724666.4:c.7034T>G	XP_006724729.1:p.Val2345Gly
XM_006724667.3:c.6872T>G	XP_006724730.1:p.Val2291Gly
XM_017029601.2:c.7061T>G	XP_016885090.1:p.Val2354Gly
XM_017029602.1:c.7031T>G	XP_016885091.1:p.Val2344Gly
XM_017029603.1:c.6983T>G	XP_016885092.1:p.Val2328Gly
XM_017029604.2:c.6950T>G	XP_016885093.1:p.Val2317Gly
XM_017029605.1:c.6947T>G	XP_016885094.1:p.Val2316Gly
XM_017029606.2:c.6920T>G	XP_016885095.1:p.Val2307Gly
XM_017029607.2:c.6917T>G	XP_016885096.1:p.Val2306Gly
XM_017029608.2:c.6869T>G	XP_016885097.1:p.Val2290Gly
XM_017029609.1:c.6833T>G	XP_016885098.1:p.Val2278Gly
XM_017029610.1:c.6830T>G	XP_016885099.1:p.Val2277Gly
XM_017029611.1:c.6785T>G	XP_016885100.1:p.Val2262Gly
XR_001755700.2:n.7450T>G
NM_138270.4:c.7037T>G	NP_612114.2:p.Val2346Gly
NM_000489.6:c.7151T>G MANE Select	NP_000480.3:p.Val2384Gly
NM_138270.5:c.7037T>G	NP_612114.2:p.Val2346Gly