Canonical Allele Identifier: CA413708884

Gene: ATRX

Linked Data

• dbSNP Id: rs2148440110
• MyVariant Identifiers: chrX:g.76907815T>C (hg19) ; chrX:g.77652325T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652325T>C , CM000685.2:g.77652325T>C	GRCh38
NC_000023.10:g.76907815T>C , CM000685.1:g.76907815T>C	GRCh37
NC_000023.9:g.76794471T>C	NCBI36
NG_008838.2:g.138897A>G
NG_008838.3:g.138945A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4346A>G MANE Select	ENSP00000362441.4:p.Lys1449Arg
ENST00000373344.9:c.4346A>G	ENSP00000362441.4:p.Lys1449Arg
ENST00000395603.7:c.4232A>G	ENSP00000378967.3:p.Lys1411Arg
ENST00000480283.5:c.*3974A>G	ENSP00000480196.1:n.*3974A>G
NM_000489.4:c.4346A>G	NP_000480.3:p.Lys1449Arg
NM_138270.3:c.4232A>G	NP_612114.2:p.Lys1411Arg
XM_005262153.3:c.4343A>G	XP_005262210.2:p.Lys1448Arg
XM_005262154.3:c.4259A>G	XP_005262211.2:p.Lys1420Arg
XM_005262155.3:c.4229A>G	XP_005262212.2:p.Lys1410Arg
XM_005262156.3:c.4181A>G	XP_005262213.2:p.Lys1394Arg
XM_005262157.3:c.4142A>G	XP_005262214.2:p.Lys1381Arg
XM_006724666.2:c.4229A>G	XP_006724729.1:p.Lys1410Arg
XM_006724667.2:c.4067A>G	XP_006724730.1:p.Lys1356Arg
XM_006724668.2:c.4346A>G	XP_006724731.1:p.Lys1449Arg
XR_938400.1:n.4614A>G
NM_000489.5:c.4346A>G	NP_000480.3:p.Lys1449Arg
XM_005262153.5:c.4343A>G	XP_005262210.2:p.Lys1448Arg
XM_005262154.5:c.4259A>G	XP_005262211.2:p.Lys1420Arg
XM_005262155.4:c.4229A>G	XP_005262212.2:p.Lys1410Arg
XM_005262156.4:c.4181A>G	XP_005262213.2:p.Lys1394Arg
XM_005262157.5:c.4142A>G	XP_005262214.2:p.Lys1381Arg
XM_006724666.4:c.4229A>G	XP_006724729.1:p.Lys1410Arg
XM_006724667.3:c.4067A>G	XP_006724730.1:p.Lys1356Arg
XM_006724668.3:c.4346A>G	XP_006724731.1:p.Lys1449Arg
XM_017029601.2:c.4256A>G	XP_016885090.1:p.Lys1419Arg
XM_017029602.1:c.4226A>G	XP_016885091.1:p.Lys1409Arg
XM_017029603.1:c.4178A>G	XP_016885092.1:p.Lys1393Arg
XM_017029604.2:c.4145A>G	XP_016885093.1:p.Lys1382Arg
XM_017029605.1:c.4142A>G	XP_016885094.1:p.Lys1381Arg
XM_017029606.2:c.4115A>G	XP_016885095.1:p.Lys1372Arg
XM_017029607.2:c.4112A>G	XP_016885096.1:p.Lys1371Arg
XM_017029608.2:c.4064A>G	XP_016885097.1:p.Lys1355Arg
XM_017029609.1:c.4028A>G	XP_016885098.1:p.Lys1343Arg
XM_017029610.1:c.4025A>G	XP_016885099.1:p.Lys1342Arg
XM_017029611.1:c.3980A>G	XP_016885100.1:p.Lys1327Arg
XR_001755700.2:n.4571A>G
NM_138270.4:c.4232A>G	NP_612114.2:p.Lys1411Arg
NM_000489.6:c.4346A>G MANE Select	NP_000480.3:p.Lys1449Arg
NM_138270.5:c.4232A>G	NP_612114.2:p.Lys1411Arg