Canonical Allele Identifier: CA413708987

Gene: ATRX

Linked Data

• dbSNP Id: rs782044671
• gnomAD v4: X-77652342-C-G
• MyVariant Identifiers: chrX:g.76907832C>G (hg19) ; chrX:g.77652342C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652342C>G , CM000685.2:g.77652342C>G	GRCh38
NC_000023.10:g.76907832C>G , CM000685.1:g.76907832C>G	GRCh37
NC_000023.9:g.76794488C>G	NCBI36
NG_008838.2:g.138880G>C
NG_008838.3:g.138928G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4329G>C MANE Select	ENSP00000362441.4:p.Glu1443Asp
ENST00000373344.9:c.4329G>C	ENSP00000362441.4:p.Glu1443Asp
ENST00000395603.7:c.4215G>C	ENSP00000378967.3:p.Glu1405Asp
ENST00000480283.5:c.*3957G>C	ENSP00000480196.1:n.*3957G>C
NM_000489.4:c.4329G>C	NP_000480.3:p.Glu1443Asp
NM_138270.3:c.4215G>C	NP_612114.2:p.Glu1405Asp
XM_005262153.3:c.4326G>C	XP_005262210.2:p.Glu1442Asp
XM_005262154.3:c.4242G>C	XP_005262211.2:p.Glu1414Asp
XM_005262155.3:c.4212G>C	XP_005262212.2:p.Glu1404Asp
XM_005262156.3:c.4164G>C	XP_005262213.2:p.Glu1388Asp
XM_005262157.3:c.4125G>C	XP_005262214.2:p.Glu1375Asp
XM_006724666.2:c.4212G>C	XP_006724729.1:p.Glu1404Asp
XM_006724667.2:c.4050G>C	XP_006724730.1:p.Glu1350Asp
XM_006724668.2:c.4329G>C	XP_006724731.1:p.Glu1443Asp
XR_938400.1:n.4597G>C
NM_000489.5:c.4329G>C	NP_000480.3:p.Glu1443Asp
XM_005262153.5:c.4326G>C	XP_005262210.2:p.Glu1442Asp
XM_005262154.5:c.4242G>C	XP_005262211.2:p.Glu1414Asp
XM_005262155.4:c.4212G>C	XP_005262212.2:p.Glu1404Asp
XM_005262156.4:c.4164G>C	XP_005262213.2:p.Glu1388Asp
XM_005262157.5:c.4125G>C	XP_005262214.2:p.Glu1375Asp
XM_006724666.4:c.4212G>C	XP_006724729.1:p.Glu1404Asp
XM_006724667.3:c.4050G>C	XP_006724730.1:p.Glu1350Asp
XM_006724668.3:c.4329G>C	XP_006724731.1:p.Glu1443Asp
XM_017029601.2:c.4239G>C	XP_016885090.1:p.Glu1413Asp
XM_017029602.1:c.4209G>C	XP_016885091.1:p.Glu1403Asp
XM_017029603.1:c.4161G>C	XP_016885092.1:p.Glu1387Asp
XM_017029604.2:c.4128G>C	XP_016885093.1:p.Glu1376Asp
XM_017029605.1:c.4125G>C	XP_016885094.1:p.Glu1375Asp
XM_017029606.2:c.4098G>C	XP_016885095.1:p.Glu1366Asp
XM_017029607.2:c.4095G>C	XP_016885096.1:p.Glu1365Asp
XM_017029608.2:c.4047G>C	XP_016885097.1:p.Glu1349Asp
XM_017029609.1:c.4011G>C	XP_016885098.1:p.Glu1337Asp
XM_017029610.1:c.4008G>C	XP_016885099.1:p.Glu1336Asp
XM_017029611.1:c.3963G>C	XP_016885100.1:p.Glu1321Asp
XR_001755700.2:n.4554G>C
NM_138270.4:c.4215G>C	NP_612114.2:p.Glu1405Asp
NM_000489.6:c.4329G>C MANE Select	NP_000480.3:p.Glu1443Asp
NM_138270.5:c.4215G>C	NP_612114.2:p.Glu1405Asp