Canonical Allele Identifier: CA413708557

Gene: ATRX

Linked Data

• dbSNP Id: rs1557117288
• gnomAD v2: X-76907767-T-C
• MyVariant Identifiers: chrX:g.76907767T>C (hg19) ; chrX:g.77652277T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652277T>C , CM000685.2:g.77652277T>C	GRCh38
NC_000023.10:g.76907767T>C , CM000685.1:g.76907767T>C	GRCh37
NC_000023.9:g.76794423T>C	NCBI36
NG_008838.2:g.138945A>G
NG_008838.3:g.138993A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4394A>G MANE Select	ENSP00000362441.4:p.Asp1465Gly
ENST00000373344.9:c.4394A>G	ENSP00000362441.4:p.Asp1465Gly
ENST00000395603.7:c.4280A>G	ENSP00000378967.3:p.Asp1427Gly
ENST00000480283.5:c.*4022A>G	ENSP00000480196.1:n.*4022A>G
NM_000489.4:c.4394A>G	NP_000480.3:p.Asp1465Gly
NM_138270.3:c.4280A>G	NP_612114.2:p.Asp1427Gly
XM_005262153.3:c.4391A>G	XP_005262210.2:p.Asp1464Gly
XM_005262154.3:c.4307A>G	XP_005262211.2:p.Asp1436Gly
XM_005262155.3:c.4277A>G	XP_005262212.2:p.Asp1426Gly
XM_005262156.3:c.4229A>G	XP_005262213.2:p.Asp1410Gly
XM_005262157.3:c.4190A>G	XP_005262214.2:p.Asp1397Gly
XM_006724666.2:c.4277A>G	XP_006724729.1:p.Asp1426Gly
XM_006724667.2:c.4115A>G	XP_006724730.1:p.Asp1372Gly
XM_006724668.2:c.4394A>G	XP_006724731.1:p.Asp1465Gly
XR_938400.1:n.4662A>G
NM_000489.5:c.4394A>G	NP_000480.3:p.Asp1465Gly
XM_005262153.5:c.4391A>G	XP_005262210.2:p.Asp1464Gly
XM_005262154.5:c.4307A>G	XP_005262211.2:p.Asp1436Gly
XM_005262155.4:c.4277A>G	XP_005262212.2:p.Asp1426Gly
XM_005262156.4:c.4229A>G	XP_005262213.2:p.Asp1410Gly
XM_005262157.5:c.4190A>G	XP_005262214.2:p.Asp1397Gly
XM_006724666.4:c.4277A>G	XP_006724729.1:p.Asp1426Gly
XM_006724667.3:c.4115A>G	XP_006724730.1:p.Asp1372Gly
XM_006724668.3:c.4394A>G	XP_006724731.1:p.Asp1465Gly
XM_017029601.2:c.4304A>G	XP_016885090.1:p.Asp1435Gly
XM_017029602.1:c.4274A>G	XP_016885091.1:p.Asp1425Gly
XM_017029603.1:c.4226A>G	XP_016885092.1:p.Asp1409Gly
XM_017029604.2:c.4193A>G	XP_016885093.1:p.Asp1398Gly
XM_017029605.1:c.4190A>G	XP_016885094.1:p.Asp1397Gly
XM_017029606.2:c.4163A>G	XP_016885095.1:p.Asp1388Gly
XM_017029607.2:c.4160A>G	XP_016885096.1:p.Asp1387Gly
XM_017029608.2:c.4112A>G	XP_016885097.1:p.Asp1371Gly
XM_017029609.1:c.4076A>G	XP_016885098.1:p.Asp1359Gly
XM_017029610.1:c.4073A>G	XP_016885099.1:p.Asp1358Gly
XM_017029611.1:c.4028A>G	XP_016885100.1:p.Asp1343Gly
XR_001755700.2:n.4619A>G
NM_138270.4:c.4280A>G	NP_612114.2:p.Asp1427Gly
NM_000489.6:c.4394A>G MANE Select	NP_000480.3:p.Asp1465Gly
NM_138270.5:c.4280A>G	NP_612114.2:p.Asp1427Gly