Canonical Allele Identifier: CA413708939

Gene: ATRX

Linked Data

• dbSNP Id: rs2069291896
• gnomAD v3: X-77652334-T-C
• gnomAD v4: X-77652334-T-C
• MyVariant Identifiers: chrX:g.76907824T>C (hg19) ; chrX:g.77652334T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652334T>C , CM000685.2:g.77652334T>C	GRCh38
NC_000023.10:g.76907824T>C , CM000685.1:g.76907824T>C	GRCh37
NC_000023.9:g.76794480T>C	NCBI36
NG_008838.2:g.138888A>G
NG_008838.3:g.138936A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4337A>G MANE Select	ENSP00000362441.4:p.Glu1446Gly
ENST00000373344.9:c.4337A>G	ENSP00000362441.4:p.Glu1446Gly
ENST00000395603.7:c.4223A>G	ENSP00000378967.3:p.Glu1408Gly
ENST00000480283.5:c.*3965A>G	ENSP00000480196.1:n.*3965A>G
NM_000489.4:c.4337A>G	NP_000480.3:p.Glu1446Gly
NM_138270.3:c.4223A>G	NP_612114.2:p.Glu1408Gly
XM_005262153.3:c.4334A>G	XP_005262210.2:p.Glu1445Gly
XM_005262154.3:c.4250A>G	XP_005262211.2:p.Glu1417Gly
XM_005262155.3:c.4220A>G	XP_005262212.2:p.Glu1407Gly
XM_005262156.3:c.4172A>G	XP_005262213.2:p.Glu1391Gly
XM_005262157.3:c.4133A>G	XP_005262214.2:p.Glu1378Gly
XM_006724666.2:c.4220A>G	XP_006724729.1:p.Glu1407Gly
XM_006724667.2:c.4058A>G	XP_006724730.1:p.Glu1353Gly
XM_006724668.2:c.4337A>G	XP_006724731.1:p.Glu1446Gly
XR_938400.1:n.4605A>G
NM_000489.5:c.4337A>G	NP_000480.3:p.Glu1446Gly
XM_005262153.5:c.4334A>G	XP_005262210.2:p.Glu1445Gly
XM_005262154.5:c.4250A>G	XP_005262211.2:p.Glu1417Gly
XM_005262155.4:c.4220A>G	XP_005262212.2:p.Glu1407Gly
XM_005262156.4:c.4172A>G	XP_005262213.2:p.Glu1391Gly
XM_005262157.5:c.4133A>G	XP_005262214.2:p.Glu1378Gly
XM_006724666.4:c.4220A>G	XP_006724729.1:p.Glu1407Gly
XM_006724667.3:c.4058A>G	XP_006724730.1:p.Glu1353Gly
XM_006724668.3:c.4337A>G	XP_006724731.1:p.Glu1446Gly
XM_017029601.2:c.4247A>G	XP_016885090.1:p.Glu1416Gly
XM_017029602.1:c.4217A>G	XP_016885091.1:p.Glu1406Gly
XM_017029603.1:c.4169A>G	XP_016885092.1:p.Glu1390Gly
XM_017029604.2:c.4136A>G	XP_016885093.1:p.Glu1379Gly
XM_017029605.1:c.4133A>G	XP_016885094.1:p.Glu1378Gly
XM_017029606.2:c.4106A>G	XP_016885095.1:p.Glu1369Gly
XM_017029607.2:c.4103A>G	XP_016885096.1:p.Glu1368Gly
XM_017029608.2:c.4055A>G	XP_016885097.1:p.Glu1352Gly
XM_017029609.1:c.4019A>G	XP_016885098.1:p.Glu1340Gly
XM_017029610.1:c.4016A>G	XP_016885099.1:p.Glu1339Gly
XM_017029611.1:c.3971A>G	XP_016885100.1:p.Glu1324Gly
XR_001755700.2:n.4562A>G
NM_138270.4:c.4223A>G	NP_612114.2:p.Glu1408Gly
NM_000489.6:c.4337A>G MANE Select	NP_000480.3:p.Glu1446Gly
NM_138270.5:c.4223A>G	NP_612114.2:p.Glu1408Gly