Canonical Allele Identifier: CA413708470

Gene: ATRX

Linked Data

• dbSNP Id: rs2148438502
• gnomAD v4: X-77652265-T-C
• MyVariant Identifiers: chrX:g.76907755T>C (hg19) ; chrX:g.77652265T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652265T>C , CM000685.2:g.77652265T>C	GRCh38
NC_000023.10:g.76907755T>C , CM000685.1:g.76907755T>C	GRCh37
NC_000023.9:g.76794411T>C	NCBI36
NG_008838.2:g.138957A>G
NG_008838.3:g.139005A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4406A>G MANE Select	ENSP00000362441.4:p.Asp1469Gly
ENST00000373344.9:c.4406A>G	ENSP00000362441.4:p.Asp1469Gly
ENST00000395603.7:c.4292A>G	ENSP00000378967.3:p.Asp1431Gly
ENST00000480283.5:c.*4034A>G	ENSP00000480196.1:n.*4034A>G
ENST00000623242.3:c.12A>G
NM_000489.4:c.4406A>G	NP_000480.3:p.Asp1469Gly
NM_138270.3:c.4292A>G	NP_612114.2:p.Asp1431Gly
XM_005262153.3:c.4403A>G	XP_005262210.2:p.Asp1468Gly
XM_005262154.3:c.4319A>G	XP_005262211.2:p.Asp1440Gly
XM_005262155.3:c.4289A>G	XP_005262212.2:p.Asp1430Gly
XM_005262156.3:c.4241A>G	XP_005262213.2:p.Asp1414Gly
XM_005262157.3:c.4202A>G	XP_005262214.2:p.Asp1401Gly
XM_006724666.2:c.4289A>G	XP_006724729.1:p.Asp1430Gly
XM_006724667.2:c.4127A>G	XP_006724730.1:p.Asp1376Gly
XM_006724668.2:c.4406A>G	XP_006724731.1:p.Asp1469Gly
XR_938400.1:n.4674A>G
NM_000489.5:c.4406A>G	NP_000480.3:p.Asp1469Gly
XM_005262153.5:c.4403A>G	XP_005262210.2:p.Asp1468Gly
XM_005262154.5:c.4319A>G	XP_005262211.2:p.Asp1440Gly
XM_005262155.4:c.4289A>G	XP_005262212.2:p.Asp1430Gly
XM_005262156.4:c.4241A>G	XP_005262213.2:p.Asp1414Gly
XM_005262157.5:c.4202A>G	XP_005262214.2:p.Asp1401Gly
XM_006724666.4:c.4289A>G	XP_006724729.1:p.Asp1430Gly
XM_006724667.3:c.4127A>G	XP_006724730.1:p.Asp1376Gly
XM_006724668.3:c.4406A>G	XP_006724731.1:p.Asp1469Gly
XM_017029601.2:c.4316A>G	XP_016885090.1:p.Asp1439Gly
XM_017029602.1:c.4286A>G	XP_016885091.1:p.Asp1429Gly
XM_017029603.1:c.4238A>G	XP_016885092.1:p.Asp1413Gly
XM_017029604.2:c.4205A>G	XP_016885093.1:p.Asp1402Gly
XM_017029605.1:c.4202A>G	XP_016885094.1:p.Asp1401Gly
XM_017029606.2:c.4175A>G	XP_016885095.1:p.Asp1392Gly
XM_017029607.2:c.4172A>G	XP_016885096.1:p.Asp1391Gly
XM_017029608.2:c.4124A>G	XP_016885097.1:p.Asp1375Gly
XM_017029609.1:c.4088A>G	XP_016885098.1:p.Asp1363Gly
XM_017029610.1:c.4085A>G	XP_016885099.1:p.Asp1362Gly
XM_017029611.1:c.4040A>G	XP_016885100.1:p.Asp1347Gly
XR_001755700.2:n.4631A>G
NM_138270.4:c.4292A>G	NP_612114.2:p.Asp1431Gly
NM_000489.6:c.4406A>G MANE Select	NP_000480.3:p.Asp1469Gly
NM_138270.5:c.4292A>G	NP_612114.2:p.Asp1431Gly