Canonical Allele Identifier: CA10457397

Gene: ATRX

Linked Data

• dbSNP Id: rs782525976
• ExAC: X:76763992 G / C
• gnomAD v2: X-76763992-G-C
• gnomAD v4: X-77508514-G-C
• MyVariant Identifiers: chrX:g.76763992G>C (hg19) ; chrX:g.77508514G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508514G>C , CM000685.2:g.77508514G>C	GRCh38
NC_000023.10:g.76763992G>C , CM000685.1:g.76763992G>C	GRCh37
NC_000023.9:g.76650648G>C	NCBI36
NG_008838.2:g.282708C>G
NG_008838.3:g.282756C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7316C>G MANE Select	ENSP00000362441.4:p.Pro2439Arg
ENST00000675732.1:c.2414C>G	ENSP00000502598.1:p.Pro805Arg
ENST00000373344.9:c.7316C>G	ENSP00000362441.4:p.Pro2439Arg
ENST00000395603.7:c.7202C>G	ENSP00000378967.3:p.Pro2401Arg
ENST00000480283.5:c.*6944C>G	ENSP00000480196.1:n.*6944C>G
ENST00000623706.3:n.5636C>G
ENST00000624766.1:n.547C>G
NM_000489.4:c.7316C>G	NP_000480.3:p.Pro2439Arg
NM_138270.3:c.7202C>G	NP_612114.2:p.Pro2401Arg
XM_005262153.3:c.7313C>G	XP_005262210.2:p.Pro2438Arg
XM_005262154.3:c.7229C>G	XP_005262211.2:p.Pro2410Arg
XM_005262155.3:c.7199C>G	XP_005262212.2:p.Pro2400Arg
XM_005262156.3:c.7151C>G	XP_005262213.2:p.Pro2384Arg
XM_005262157.3:c.7112C>G	XP_005262214.2:p.Pro2371Arg
XM_006724666.2:c.7199C>G	XP_006724729.1:p.Pro2400Arg
XM_006724667.2:c.7037C>G	XP_006724730.1:p.Pro2346Arg
XR_938400.1:n.8908C>G
NM_000489.5:c.7316C>G	NP_000480.3:p.Pro2439Arg
XM_005262153.5:c.7313C>G	XP_005262210.2:p.Pro2438Arg
XM_005262154.5:c.7229C>G	XP_005262211.2:p.Pro2410Arg
XM_005262155.4:c.7199C>G	XP_005262212.2:p.Pro2400Arg
XM_005262156.4:c.7151C>G	XP_005262213.2:p.Pro2384Arg
XM_005262157.5:c.7112C>G	XP_005262214.2:p.Pro2371Arg
XM_006724666.4:c.7199C>G	XP_006724729.1:p.Pro2400Arg
XM_006724667.3:c.7037C>G	XP_006724730.1:p.Pro2346Arg
XM_017029601.2:c.7226C>G	XP_016885090.1:p.Pro2409Arg
XM_017029602.1:c.7196C>G	XP_016885091.1:p.Pro2399Arg
XM_017029603.1:c.7148C>G	XP_016885092.1:p.Pro2383Arg
XM_017029604.2:c.7115C>G	XP_016885093.1:p.Pro2372Arg
XM_017029605.1:c.7112C>G	XP_016885094.1:p.Pro2371Arg
XM_017029606.2:c.7085C>G	XP_016885095.1:p.Pro2362Arg
XM_017029607.2:c.7082C>G	XP_016885096.1:p.Pro2361Arg
XM_017029608.2:c.7034C>G	XP_016885097.1:p.Pro2345Arg
XM_017029609.1:c.6998C>G	XP_016885098.1:p.Pro2333Arg
XM_017029610.1:c.6995C>G	XP_016885099.1:p.Pro2332Arg
XM_017029611.1:c.6950C>G	XP_016885100.1:p.Pro2317Arg
XR_001755700.2:n.7615C>G
NM_138270.4:c.7202C>G	NP_612114.2:p.Pro2401Arg
NM_000489.6:c.7316C>G MANE Select	NP_000480.3:p.Pro2439Arg
NM_138270.5:c.7202C>G	NP_612114.2:p.Pro2401Arg