Canonical Allele Identifier: CA413708088

Gene: ATRX

Linked Data

• dbSNP Id: rs2148436969
• MyVariant Identifiers: chrX:g.76907681G>C (hg19) ; chrX:g.77652191G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652191G>C , CM000685.2:g.77652191G>C	GRCh38
NC_000023.10:g.76907681G>C , CM000685.1:g.76907681G>C	GRCh37
NC_000023.9:g.76794337G>C	NCBI36
NG_008838.2:g.139031C>G
NG_008838.3:g.139079C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4480C>G MANE Select	ENSP00000362441.4:p.Gln1494Glu
ENST00000373344.9:c.4480C>G	ENSP00000362441.4:p.Gln1494Glu
ENST00000395603.7:c.4366C>G	ENSP00000378967.3:p.Gln1456Glu
ENST00000480283.5:c.*4108C>G	ENSP00000480196.1:n.*4108C>G
ENST00000623242.3:c.86C>G
NM_000489.4:c.4480C>G	NP_000480.3:p.Gln1494Glu
NM_138270.3:c.4366C>G	NP_612114.2:p.Gln1456Glu
XM_005262153.3:c.4477C>G	XP_005262210.2:p.Gln1493Glu
XM_005262154.3:c.4393C>G	XP_005262211.2:p.Gln1465Glu
XM_005262155.3:c.4363C>G	XP_005262212.2:p.Gln1455Glu
XM_005262156.3:c.4315C>G	XP_005262213.2:p.Gln1439Glu
XM_005262157.3:c.4276C>G	XP_005262214.2:p.Gln1426Glu
XM_006724666.2:c.4363C>G	XP_006724729.1:p.Gln1455Glu
XM_006724667.2:c.4201C>G	XP_006724730.1:p.Gln1401Glu
XM_006724668.2:c.4480C>G	XP_006724731.1:p.Gln1494Glu
XR_938400.1:n.4748C>G
NM_000489.5:c.4480C>G	NP_000480.3:p.Gln1494Glu
XM_005262153.5:c.4477C>G	XP_005262210.2:p.Gln1493Glu
XM_005262154.5:c.4393C>G	XP_005262211.2:p.Gln1465Glu
XM_005262155.4:c.4363C>G	XP_005262212.2:p.Gln1455Glu
XM_005262156.4:c.4315C>G	XP_005262213.2:p.Gln1439Glu
XM_005262157.5:c.4276C>G	XP_005262214.2:p.Gln1426Glu
XM_006724666.4:c.4363C>G	XP_006724729.1:p.Gln1455Glu
XM_006724667.3:c.4201C>G	XP_006724730.1:p.Gln1401Glu
XM_006724668.3:c.4480C>G	XP_006724731.1:p.Gln1494Glu
XM_017029601.2:c.4390C>G	XP_016885090.1:p.Gln1464Glu
XM_017029602.1:c.4360C>G	XP_016885091.1:p.Gln1454Glu
XM_017029603.1:c.4312C>G	XP_016885092.1:p.Gln1438Glu
XM_017029604.2:c.4279C>G	XP_016885093.1:p.Gln1427Glu
XM_017029605.1:c.4276C>G	XP_016885094.1:p.Gln1426Glu
XM_017029606.2:c.4249C>G	XP_016885095.1:p.Gln1417Glu
XM_017029607.2:c.4246C>G	XP_016885096.1:p.Gln1416Glu
XM_017029608.2:c.4198C>G	XP_016885097.1:p.Gln1400Glu
XM_017029609.1:c.4162C>G	XP_016885098.1:p.Gln1388Glu
XM_017029610.1:c.4159C>G	XP_016885099.1:p.Gln1387Glu
XM_017029611.1:c.4114C>G	XP_016885100.1:p.Gln1372Glu
XR_001755700.2:n.4705C>G
NM_138270.4:c.4366C>G	NP_612114.2:p.Gln1456Glu
NM_000489.6:c.4480C>G MANE Select	NP_000480.3:p.Gln1494Glu
NM_138270.5:c.4366C>G	NP_612114.2:p.Gln1456Glu