Canonical Allele Identifier: CA413708086

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907681G>A (hg19) ; chrX:g.77652191G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4480C>T MANE Select	ENSP00000362441.4:p.Gln1494Ter
ENST00000373344.9:c.4480C>T	ENSP00000362441.4:p.Gln1494Ter
ENST00000395603.7:c.4366C>T	ENSP00000378967.3:p.Gln1456Ter
ENST00000480283.5:c.*4108C>T	ENSP00000480196.1:n.*4108C>T
ENST00000623242.3:c.86C>T
NM_000489.4:c.4480C>T	NP_000480.3:p.Gln1494Ter
NM_138270.3:c.4366C>T	NP_612114.2:p.Gln1456Ter
XM_005262153.3:c.4477C>T	XP_005262210.2:p.Gln1493Ter
XM_005262154.3:c.4393C>T	XP_005262211.2:p.Gln1465Ter
XM_005262155.3:c.4363C>T	XP_005262212.2:p.Gln1455Ter
XM_005262156.3:c.4315C>T	XP_005262213.2:p.Gln1439Ter
XM_005262157.3:c.4276C>T	XP_005262214.2:p.Gln1426Ter
XM_006724666.2:c.4363C>T	XP_006724729.1:p.Gln1455Ter
XM_006724667.2:c.4201C>T	XP_006724730.1:p.Gln1401Ter
XM_006724668.2:c.4480C>T	XP_006724731.1:p.Gln1494Ter
XR_938400.1:n.4748C>T
NM_000489.5:c.4480C>T	NP_000480.3:p.Gln1494Ter
XM_005262153.5:c.4477C>T	XP_005262210.2:p.Gln1493Ter
XM_005262154.5:c.4393C>T	XP_005262211.2:p.Gln1465Ter
XM_005262155.4:c.4363C>T	XP_005262212.2:p.Gln1455Ter
XM_005262156.4:c.4315C>T	XP_005262213.2:p.Gln1439Ter
XM_005262157.5:c.4276C>T	XP_005262214.2:p.Gln1426Ter
XM_006724666.4:c.4363C>T	XP_006724729.1:p.Gln1455Ter
XM_006724667.3:c.4201C>T	XP_006724730.1:p.Gln1401Ter
XM_006724668.3:c.4480C>T	XP_006724731.1:p.Gln1494Ter
XM_017029601.2:c.4390C>T	XP_016885090.1:p.Gln1464Ter
XM_017029602.1:c.4360C>T	XP_016885091.1:p.Gln1454Ter
XM_017029603.1:c.4312C>T	XP_016885092.1:p.Gln1438Ter
XM_017029604.2:c.4279C>T	XP_016885093.1:p.Gln1427Ter
XM_017029605.1:c.4276C>T	XP_016885094.1:p.Gln1426Ter
XM_017029606.2:c.4249C>T	XP_016885095.1:p.Gln1417Ter
XM_017029607.2:c.4246C>T	XP_016885096.1:p.Gln1416Ter
XM_017029608.2:c.4198C>T	XP_016885097.1:p.Gln1400Ter
XM_017029609.1:c.4162C>T	XP_016885098.1:p.Gln1388Ter
XM_017029610.1:c.4159C>T	XP_016885099.1:p.Gln1387Ter
XM_017029611.1:c.4114C>T	XP_016885100.1:p.Gln1372Ter
XR_001755700.2:n.4705C>T
NM_138270.4:c.4366C>T	NP_612114.2:p.Gln1456Ter
NM_000489.6:c.4480C>T MANE Select	NP_000480.3:p.Gln1494Ter
NM_138270.5:c.4366C>T	NP_612114.2:p.Gln1456Ter