Canonical Allele Identifier: CA413708427

Gene: ATRX

Linked Data

• dbSNP Id: rs2148438344
• MyVariant Identifiers: chrX:g.76907749T>A (hg19) ; chrX:g.77652259T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652259T>A , CM000685.2:g.77652259T>A	GRCh38
NC_000023.10:g.76907749T>A , CM000685.1:g.76907749T>A	GRCh37
NC_000023.9:g.76794405T>A	NCBI36
NG_008838.2:g.138963A>T
NG_008838.3:g.139011A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4412A>T MANE Select	ENSP00000362441.4:p.Lys1471Met
ENST00000373344.9:c.4412A>T	ENSP00000362441.4:p.Lys1471Met
ENST00000395603.7:c.4298A>T	ENSP00000378967.3:p.Lys1433Met
ENST00000480283.5:c.*4040A>T	ENSP00000480196.1:n.*4040A>T
ENST00000623242.3:c.18A>T
NM_000489.4:c.4412A>T	NP_000480.3:p.Lys1471Met
NM_138270.3:c.4298A>T	NP_612114.2:p.Lys1433Met
XM_005262153.3:c.4409A>T	XP_005262210.2:p.Lys1470Met
XM_005262154.3:c.4325A>T	XP_005262211.2:p.Lys1442Met
XM_005262155.3:c.4295A>T	XP_005262212.2:p.Lys1432Met
XM_005262156.3:c.4247A>T	XP_005262213.2:p.Lys1416Met
XM_005262157.3:c.4208A>T	XP_005262214.2:p.Lys1403Met
XM_006724666.2:c.4295A>T	XP_006724729.1:p.Lys1432Met
XM_006724667.2:c.4133A>T	XP_006724730.1:p.Lys1378Met
XM_006724668.2:c.4412A>T	XP_006724731.1:p.Lys1471Met
XR_938400.1:n.4680A>T
NM_000489.5:c.4412A>T	NP_000480.3:p.Lys1471Met
XM_005262153.5:c.4409A>T	XP_005262210.2:p.Lys1470Met
XM_005262154.5:c.4325A>T	XP_005262211.2:p.Lys1442Met
XM_005262155.4:c.4295A>T	XP_005262212.2:p.Lys1432Met
XM_005262156.4:c.4247A>T	XP_005262213.2:p.Lys1416Met
XM_005262157.5:c.4208A>T	XP_005262214.2:p.Lys1403Met
XM_006724666.4:c.4295A>T	XP_006724729.1:p.Lys1432Met
XM_006724667.3:c.4133A>T	XP_006724730.1:p.Lys1378Met
XM_006724668.3:c.4412A>T	XP_006724731.1:p.Lys1471Met
XM_017029601.2:c.4322A>T	XP_016885090.1:p.Lys1441Met
XM_017029602.1:c.4292A>T	XP_016885091.1:p.Lys1431Met
XM_017029603.1:c.4244A>T	XP_016885092.1:p.Lys1415Met
XM_017029604.2:c.4211A>T	XP_016885093.1:p.Lys1404Met
XM_017029605.1:c.4208A>T	XP_016885094.1:p.Lys1403Met
XM_017029606.2:c.4181A>T	XP_016885095.1:p.Lys1394Met
XM_017029607.2:c.4178A>T	XP_016885096.1:p.Lys1393Met
XM_017029608.2:c.4130A>T	XP_016885097.1:p.Lys1377Met
XM_017029609.1:c.4094A>T	XP_016885098.1:p.Lys1365Met
XM_017029610.1:c.4091A>T	XP_016885099.1:p.Lys1364Met
XM_017029611.1:c.4046A>T	XP_016885100.1:p.Lys1349Met
XR_001755700.2:n.4637A>T
NM_138270.4:c.4298A>T	NP_612114.2:p.Lys1433Met
NM_000489.6:c.4412A>T MANE Select	NP_000480.3:p.Lys1471Met
NM_138270.5:c.4298A>T	NP_612114.2:p.Lys1433Met