Canonical Allele Identifier: CA413708731

Gene: ATRX

Linked Data

• dbSNP Id: rs2148439501
• gnomAD v4: X-77652300-C-G
• MyVariant Identifiers: chrX:g.76907790C>G (hg19) ; chrX:g.77652300C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652300C>G , CM000685.2:g.77652300C>G	GRCh38
NC_000023.10:g.76907790C>G , CM000685.1:g.76907790C>G	GRCh37
NC_000023.9:g.76794446C>G	NCBI36
NG_008838.2:g.138922G>C
NG_008838.3:g.138970G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4371G>C MANE Select	ENSP00000362441.4:p.Glu1457Asp
ENST00000373344.9:c.4371G>C	ENSP00000362441.4:p.Glu1457Asp
ENST00000395603.7:c.4257G>C	ENSP00000378967.3:p.Glu1419Asp
ENST00000480283.5:c.*3999G>C	ENSP00000480196.1:n.*3999G>C
NM_000489.4:c.4371G>C	NP_000480.3:p.Glu1457Asp
NM_138270.3:c.4257G>C	NP_612114.2:p.Glu1419Asp
XM_005262153.3:c.4368G>C	XP_005262210.2:p.Glu1456Asp
XM_005262154.3:c.4284G>C	XP_005262211.2:p.Glu1428Asp
XM_005262155.3:c.4254G>C	XP_005262212.2:p.Glu1418Asp
XM_005262156.3:c.4206G>C	XP_005262213.2:p.Glu1402Asp
XM_005262157.3:c.4167G>C	XP_005262214.2:p.Glu1389Asp
XM_006724666.2:c.4254G>C	XP_006724729.1:p.Glu1418Asp
XM_006724667.2:c.4092G>C	XP_006724730.1:p.Glu1364Asp
XM_006724668.2:c.4371G>C	XP_006724731.1:p.Glu1457Asp
XR_938400.1:n.4639G>C
NM_000489.5:c.4371G>C	NP_000480.3:p.Glu1457Asp
XM_005262153.5:c.4368G>C	XP_005262210.2:p.Glu1456Asp
XM_005262154.5:c.4284G>C	XP_005262211.2:p.Glu1428Asp
XM_005262155.4:c.4254G>C	XP_005262212.2:p.Glu1418Asp
XM_005262156.4:c.4206G>C	XP_005262213.2:p.Glu1402Asp
XM_005262157.5:c.4167G>C	XP_005262214.2:p.Glu1389Asp
XM_006724666.4:c.4254G>C	XP_006724729.1:p.Glu1418Asp
XM_006724667.3:c.4092G>C	XP_006724730.1:p.Glu1364Asp
XM_006724668.3:c.4371G>C	XP_006724731.1:p.Glu1457Asp
XM_017029601.2:c.4281G>C	XP_016885090.1:p.Glu1427Asp
XM_017029602.1:c.4251G>C	XP_016885091.1:p.Glu1417Asp
XM_017029603.1:c.4203G>C	XP_016885092.1:p.Glu1401Asp
XM_017029604.2:c.4170G>C	XP_016885093.1:p.Glu1390Asp
XM_017029605.1:c.4167G>C	XP_016885094.1:p.Glu1389Asp
XM_017029606.2:c.4140G>C	XP_016885095.1:p.Glu1380Asp
XM_017029607.2:c.4137G>C	XP_016885096.1:p.Glu1379Asp
XM_017029608.2:c.4089G>C	XP_016885097.1:p.Glu1363Asp
XM_017029609.1:c.4053G>C	XP_016885098.1:p.Glu1351Asp
XM_017029610.1:c.4050G>C	XP_016885099.1:p.Glu1350Asp
XM_017029611.1:c.4005G>C	XP_016885100.1:p.Glu1335Asp
XR_001755700.2:n.4596G>C
NM_138270.4:c.4257G>C	NP_612114.2:p.Glu1419Asp
NM_000489.6:c.4371G>C MANE Select	NP_000480.3:p.Glu1457Asp
NM_138270.5:c.4257G>C	NP_612114.2:p.Glu1419Asp