Canonical Allele Identifier: CA10457380

Gene: ATRX

Linked Data

• dbSNP Id: rs782445691
• ExAC: X:76763902 G / C
• MyVariant Identifiers: chrX:g.76763902G>C (hg19) ; chrX:g.77508424G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508424G>C , CM000685.2:g.77508424G>C	GRCh38
NC_000023.10:g.76763902G>C , CM000685.1:g.76763902G>C	GRCh37
NC_000023.9:g.76650558G>C	NCBI36
NG_008838.2:g.282798C>G
NG_008838.3:g.282846C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7406C>G MANE Select	ENSP00000362441.4:p.Pro2469Arg
ENST00000675732.1:c.2504C>G	ENSP00000502598.1:p.Pro835Arg
ENST00000373344.9:c.7406C>G	ENSP00000362441.4:p.Pro2469Arg
ENST00000395603.7:c.7292C>G	ENSP00000378967.3:p.Pro2431Arg
ENST00000480283.5:c.*7034C>G	ENSP00000480196.1:n.*7034C>G
ENST00000623706.3:n.5726C>G
NM_000489.4:c.7406C>G	NP_000480.3:p.Pro2469Arg
NM_138270.3:c.7292C>G	NP_612114.2:p.Pro2431Arg
XM_005262153.3:c.7403C>G	XP_005262210.2:p.Pro2468Arg
XM_005262154.3:c.7319C>G	XP_005262211.2:p.Pro2440Arg
XM_005262155.3:c.7289C>G	XP_005262212.2:p.Pro2430Arg
XM_005262156.3:c.7241C>G	XP_005262213.2:p.Pro2414Arg
XM_005262157.3:c.7202C>G	XP_005262214.2:p.Pro2401Arg
XM_006724666.2:c.7289C>G	XP_006724729.1:p.Pro2430Arg
XM_006724667.2:c.7127C>G	XP_006724730.1:p.Pro2376Arg
XR_938400.1:n.8998C>G
NM_000489.5:c.7406C>G	NP_000480.3:p.Pro2469Arg
XM_005262153.5:c.7403C>G	XP_005262210.2:p.Pro2468Arg
XM_005262154.5:c.7319C>G	XP_005262211.2:p.Pro2440Arg
XM_005262155.4:c.7289C>G	XP_005262212.2:p.Pro2430Arg
XM_005262156.4:c.7241C>G	XP_005262213.2:p.Pro2414Arg
XM_005262157.5:c.7202C>G	XP_005262214.2:p.Pro2401Arg
XM_006724666.4:c.7289C>G	XP_006724729.1:p.Pro2430Arg
XM_006724667.3:c.7127C>G	XP_006724730.1:p.Pro2376Arg
XM_017029601.2:c.7316C>G	XP_016885090.1:p.Pro2439Arg
XM_017029602.1:c.7286C>G	XP_016885091.1:p.Pro2429Arg
XM_017029603.1:c.7238C>G	XP_016885092.1:p.Pro2413Arg
XM_017029604.2:c.7205C>G	XP_016885093.1:p.Pro2402Arg
XM_017029605.1:c.7202C>G	XP_016885094.1:p.Pro2401Arg
XM_017029606.2:c.7175C>G	XP_016885095.1:p.Pro2392Arg
XM_017029607.2:c.7172C>G	XP_016885096.1:p.Pro2391Arg
XM_017029608.2:c.7124C>G	XP_016885097.1:p.Pro2375Arg
XM_017029609.1:c.7088C>G	XP_016885098.1:p.Pro2363Arg
XM_017029610.1:c.7085C>G	XP_016885099.1:p.Pro2362Arg
XM_017029611.1:c.7040C>G	XP_016885100.1:p.Pro2347Arg
XR_001755700.2:n.7705C>G
NM_138270.4:c.7292C>G	NP_612114.2:p.Pro2431Arg
NM_000489.6:c.7406C>G MANE Select	NP_000480.3:p.Pro2469Arg
NM_138270.5:c.7292C>G	NP_612114.2:p.Pro2431Arg