Canonical Allele Identifier: CA413708430

Gene: ATRX

Linked Data

• dbSNP Id: rs2148438344
• gnomAD v4: X-77652259-T-C
• MyVariant Identifiers: chrX:g.76907749T>C (hg19) ; chrX:g.77652259T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4412A>G MANE Select	ENSP00000362441.4:p.Lys1471Arg
ENST00000373344.9:c.4412A>G	ENSP00000362441.4:p.Lys1471Arg
ENST00000395603.7:c.4298A>G	ENSP00000378967.3:p.Lys1433Arg
ENST00000480283.5:c.*4040A>G	ENSP00000480196.1:n.*4040A>G
ENST00000623242.3:c.18A>G
NM_000489.4:c.4412A>G	NP_000480.3:p.Lys1471Arg
NM_138270.3:c.4298A>G	NP_612114.2:p.Lys1433Arg
XM_005262153.3:c.4409A>G	XP_005262210.2:p.Lys1470Arg
XM_005262154.3:c.4325A>G	XP_005262211.2:p.Lys1442Arg
XM_005262155.3:c.4295A>G	XP_005262212.2:p.Lys1432Arg
XM_005262156.3:c.4247A>G	XP_005262213.2:p.Lys1416Arg
XM_005262157.3:c.4208A>G	XP_005262214.2:p.Lys1403Arg
XM_006724666.2:c.4295A>G	XP_006724729.1:p.Lys1432Arg
XM_006724667.2:c.4133A>G	XP_006724730.1:p.Lys1378Arg
XM_006724668.2:c.4412A>G	XP_006724731.1:p.Lys1471Arg
XR_938400.1:n.4680A>G
NM_000489.5:c.4412A>G	NP_000480.3:p.Lys1471Arg
XM_005262153.5:c.4409A>G	XP_005262210.2:p.Lys1470Arg
XM_005262154.5:c.4325A>G	XP_005262211.2:p.Lys1442Arg
XM_005262155.4:c.4295A>G	XP_005262212.2:p.Lys1432Arg
XM_005262156.4:c.4247A>G	XP_005262213.2:p.Lys1416Arg
XM_005262157.5:c.4208A>G	XP_005262214.2:p.Lys1403Arg
XM_006724666.4:c.4295A>G	XP_006724729.1:p.Lys1432Arg
XM_006724667.3:c.4133A>G	XP_006724730.1:p.Lys1378Arg
XM_006724668.3:c.4412A>G	XP_006724731.1:p.Lys1471Arg
XM_017029601.2:c.4322A>G	XP_016885090.1:p.Lys1441Arg
XM_017029602.1:c.4292A>G	XP_016885091.1:p.Lys1431Arg
XM_017029603.1:c.4244A>G	XP_016885092.1:p.Lys1415Arg
XM_017029604.2:c.4211A>G	XP_016885093.1:p.Lys1404Arg
XM_017029605.1:c.4208A>G	XP_016885094.1:p.Lys1403Arg
XM_017029606.2:c.4181A>G	XP_016885095.1:p.Lys1394Arg
XM_017029607.2:c.4178A>G	XP_016885096.1:p.Lys1393Arg
XM_017029608.2:c.4130A>G	XP_016885097.1:p.Lys1377Arg
XM_017029609.1:c.4094A>G	XP_016885098.1:p.Lys1365Arg
XM_017029610.1:c.4091A>G	XP_016885099.1:p.Lys1364Arg
XM_017029611.1:c.4046A>G	XP_016885100.1:p.Lys1349Arg
XR_001755700.2:n.4637A>G
NM_138270.4:c.4298A>G	NP_612114.2:p.Lys1433Arg
NM_000489.6:c.4412A>G MANE Select	NP_000480.3:p.Lys1471Arg
NM_138270.5:c.4298A>G	NP_612114.2:p.Lys1433Arg