Canonical Allele Identifier: CA413708930

Gene: ATRX

Linked Data

• dbSNP Id: rs2148440248
• MyVariant Identifiers: chrX:g.76907822C>G (hg19) ; chrX:g.77652332C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652332C>G , CM000685.2:g.77652332C>G	GRCh38
NC_000023.10:g.76907822C>G , CM000685.1:g.76907822C>G	GRCh37
NC_000023.9:g.76794478C>G	NCBI36
NG_008838.2:g.138890G>C
NG_008838.3:g.138938G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4339G>C MANE Select	ENSP00000362441.4:p.Glu1447Gln
ENST00000373344.9:c.4339G>C	ENSP00000362441.4:p.Glu1447Gln
ENST00000395603.7:c.4225G>C	ENSP00000378967.3:p.Glu1409Gln
ENST00000480283.5:c.*3967G>C	ENSP00000480196.1:n.*3967G>C
NM_000489.4:c.4339G>C	NP_000480.3:p.Glu1447Gln
NM_138270.3:c.4225G>C	NP_612114.2:p.Glu1409Gln
XM_005262153.3:c.4336G>C	XP_005262210.2:p.Glu1446Gln
XM_005262154.3:c.4252G>C	XP_005262211.2:p.Glu1418Gln
XM_005262155.3:c.4222G>C	XP_005262212.2:p.Glu1408Gln
XM_005262156.3:c.4174G>C	XP_005262213.2:p.Glu1392Gln
XM_005262157.3:c.4135G>C	XP_005262214.2:p.Glu1379Gln
XM_006724666.2:c.4222G>C	XP_006724729.1:p.Glu1408Gln
XM_006724667.2:c.4060G>C	XP_006724730.1:p.Glu1354Gln
XM_006724668.2:c.4339G>C	XP_006724731.1:p.Glu1447Gln
XR_938400.1:n.4607G>C
NM_000489.5:c.4339G>C	NP_000480.3:p.Glu1447Gln
XM_005262153.5:c.4336G>C	XP_005262210.2:p.Glu1446Gln
XM_005262154.5:c.4252G>C	XP_005262211.2:p.Glu1418Gln
XM_005262155.4:c.4222G>C	XP_005262212.2:p.Glu1408Gln
XM_005262156.4:c.4174G>C	XP_005262213.2:p.Glu1392Gln
XM_005262157.5:c.4135G>C	XP_005262214.2:p.Glu1379Gln
XM_006724666.4:c.4222G>C	XP_006724729.1:p.Glu1408Gln
XM_006724667.3:c.4060G>C	XP_006724730.1:p.Glu1354Gln
XM_006724668.3:c.4339G>C	XP_006724731.1:p.Glu1447Gln
XM_017029601.2:c.4249G>C	XP_016885090.1:p.Glu1417Gln
XM_017029602.1:c.4219G>C	XP_016885091.1:p.Glu1407Gln
XM_017029603.1:c.4171G>C	XP_016885092.1:p.Glu1391Gln
XM_017029604.2:c.4138G>C	XP_016885093.1:p.Glu1380Gln
XM_017029605.1:c.4135G>C	XP_016885094.1:p.Glu1379Gln
XM_017029606.2:c.4108G>C	XP_016885095.1:p.Glu1370Gln
XM_017029607.2:c.4105G>C	XP_016885096.1:p.Glu1369Gln
XM_017029608.2:c.4057G>C	XP_016885097.1:p.Glu1353Gln
XM_017029609.1:c.4021G>C	XP_016885098.1:p.Glu1341Gln
XM_017029610.1:c.4018G>C	XP_016885099.1:p.Glu1340Gln
XM_017029611.1:c.3973G>C	XP_016885100.1:p.Glu1325Gln
XR_001755700.2:n.4564G>C
NM_138270.4:c.4225G>C	NP_612114.2:p.Glu1409Gln
NM_000489.6:c.4339G>C MANE Select	NP_000480.3:p.Glu1447Gln
NM_138270.5:c.4225G>C	NP_612114.2:p.Glu1409Gln