Canonical Allele Identifier: CA413708453

Gene: ATRX

Linked Data

• dbSNP Id: rs2148438409
• MyVariant Identifiers: chrX:g.76907752G>A (hg19) ; chrX:g.77652262G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652262G>A , CM000685.2:g.77652262G>A	GRCh38
NC_000023.10:g.76907752G>A , CM000685.1:g.76907752G>A	GRCh37
NC_000023.9:g.76794408G>A	NCBI36
NG_008838.2:g.138960C>T
NG_008838.3:g.139008C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4409C>T MANE Select	ENSP00000362441.4:p.Ser1470Phe
ENST00000373344.9:c.4409C>T	ENSP00000362441.4:p.Ser1470Phe
ENST00000395603.7:c.4295C>T	ENSP00000378967.3:p.Ser1432Phe
ENST00000480283.5:c.*4037C>T	ENSP00000480196.1:n.*4037C>T
ENST00000623242.3:c.15C>T
NM_000489.4:c.4409C>T	NP_000480.3:p.Ser1470Phe
NM_138270.3:c.4295C>T	NP_612114.2:p.Ser1432Phe
XM_005262153.3:c.4406C>T	XP_005262210.2:p.Ser1469Phe
XM_005262154.3:c.4322C>T	XP_005262211.2:p.Ser1441Phe
XM_005262155.3:c.4292C>T	XP_005262212.2:p.Ser1431Phe
XM_005262156.3:c.4244C>T	XP_005262213.2:p.Ser1415Phe
XM_005262157.3:c.4205C>T	XP_005262214.2:p.Ser1402Phe
XM_006724666.2:c.4292C>T	XP_006724729.1:p.Ser1431Phe
XM_006724667.2:c.4130C>T	XP_006724730.1:p.Ser1377Phe
XM_006724668.2:c.4409C>T	XP_006724731.1:p.Ser1470Phe
XR_938400.1:n.4677C>T
NM_000489.5:c.4409C>T	NP_000480.3:p.Ser1470Phe
XM_005262153.5:c.4406C>T	XP_005262210.2:p.Ser1469Phe
XM_005262154.5:c.4322C>T	XP_005262211.2:p.Ser1441Phe
XM_005262155.4:c.4292C>T	XP_005262212.2:p.Ser1431Phe
XM_005262156.4:c.4244C>T	XP_005262213.2:p.Ser1415Phe
XM_005262157.5:c.4205C>T	XP_005262214.2:p.Ser1402Phe
XM_006724666.4:c.4292C>T	XP_006724729.1:p.Ser1431Phe
XM_006724667.3:c.4130C>T	XP_006724730.1:p.Ser1377Phe
XM_006724668.3:c.4409C>T	XP_006724731.1:p.Ser1470Phe
XM_017029601.2:c.4319C>T	XP_016885090.1:p.Ser1440Phe
XM_017029602.1:c.4289C>T	XP_016885091.1:p.Ser1430Phe
XM_017029603.1:c.4241C>T	XP_016885092.1:p.Ser1414Phe
XM_017029604.2:c.4208C>T	XP_016885093.1:p.Ser1403Phe
XM_017029605.1:c.4205C>T	XP_016885094.1:p.Ser1402Phe
XM_017029606.2:c.4178C>T	XP_016885095.1:p.Ser1393Phe
XM_017029607.2:c.4175C>T	XP_016885096.1:p.Ser1392Phe
XM_017029608.2:c.4127C>T	XP_016885097.1:p.Ser1376Phe
XM_017029609.1:c.4091C>T	XP_016885098.1:p.Ser1364Phe
XM_017029610.1:c.4088C>T	XP_016885099.1:p.Ser1363Phe
XM_017029611.1:c.4043C>T	XP_016885100.1:p.Ser1348Phe
XR_001755700.2:n.4634C>T
NM_138270.4:c.4295C>T	NP_612114.2:p.Ser1432Phe
NM_000489.6:c.4409C>T MANE Select	NP_000480.3:p.Ser1470Phe
NM_138270.5:c.4295C>T	NP_612114.2:p.Ser1432Phe