Canonical Allele Identifier: CA413708855

Gene: ATRX

Linked Data

• dbSNP Id: rs2148440028
• gnomAD v4: X-77652320-C-G
• MyVariant Identifiers: chrX:g.76907810C>G (hg19) ; chrX:g.77652320C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652320C>G , CM000685.2:g.77652320C>G	GRCh38
NC_000023.10:g.76907810C>G , CM000685.1:g.76907810C>G	GRCh37
NC_000023.9:g.76794466C>G	NCBI36
NG_008838.2:g.138902G>C
NG_008838.3:g.138950G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4351G>C MANE Select	ENSP00000362441.4:p.Glu1451Gln
ENST00000373344.9:c.4351G>C	ENSP00000362441.4:p.Glu1451Gln
ENST00000395603.7:c.4237G>C	ENSP00000378967.3:p.Glu1413Gln
ENST00000480283.5:c.*3979G>C	ENSP00000480196.1:n.*3979G>C
NM_000489.4:c.4351G>C	NP_000480.3:p.Glu1451Gln
NM_138270.3:c.4237G>C	NP_612114.2:p.Glu1413Gln
XM_005262153.3:c.4348G>C	XP_005262210.2:p.Glu1450Gln
XM_005262154.3:c.4264G>C	XP_005262211.2:p.Glu1422Gln
XM_005262155.3:c.4234G>C	XP_005262212.2:p.Glu1412Gln
XM_005262156.3:c.4186G>C	XP_005262213.2:p.Glu1396Gln
XM_005262157.3:c.4147G>C	XP_005262214.2:p.Glu1383Gln
XM_006724666.2:c.4234G>C	XP_006724729.1:p.Glu1412Gln
XM_006724667.2:c.4072G>C	XP_006724730.1:p.Glu1358Gln
XM_006724668.2:c.4351G>C	XP_006724731.1:p.Glu1451Gln
XR_938400.1:n.4619G>C
NM_000489.5:c.4351G>C	NP_000480.3:p.Glu1451Gln
XM_005262153.5:c.4348G>C	XP_005262210.2:p.Glu1450Gln
XM_005262154.5:c.4264G>C	XP_005262211.2:p.Glu1422Gln
XM_005262155.4:c.4234G>C	XP_005262212.2:p.Glu1412Gln
XM_005262156.4:c.4186G>C	XP_005262213.2:p.Glu1396Gln
XM_005262157.5:c.4147G>C	XP_005262214.2:p.Glu1383Gln
XM_006724666.4:c.4234G>C	XP_006724729.1:p.Glu1412Gln
XM_006724667.3:c.4072G>C	XP_006724730.1:p.Glu1358Gln
XM_006724668.3:c.4351G>C	XP_006724731.1:p.Glu1451Gln
XM_017029601.2:c.4261G>C	XP_016885090.1:p.Glu1421Gln
XM_017029602.1:c.4231G>C	XP_016885091.1:p.Glu1411Gln
XM_017029603.1:c.4183G>C	XP_016885092.1:p.Glu1395Gln
XM_017029604.2:c.4150G>C	XP_016885093.1:p.Glu1384Gln
XM_017029605.1:c.4147G>C	XP_016885094.1:p.Glu1383Gln
XM_017029606.2:c.4120G>C	XP_016885095.1:p.Glu1374Gln
XM_017029607.2:c.4117G>C	XP_016885096.1:p.Glu1373Gln
XM_017029608.2:c.4069G>C	XP_016885097.1:p.Glu1357Gln
XM_017029609.1:c.4033G>C	XP_016885098.1:p.Glu1345Gln
XM_017029610.1:c.4030G>C	XP_016885099.1:p.Glu1344Gln
XM_017029611.1:c.3985G>C	XP_016885100.1:p.Glu1329Gln
XR_001755700.2:n.4576G>C
NM_138270.4:c.4237G>C	NP_612114.2:p.Glu1413Gln
NM_000489.6:c.4351G>C MANE Select	NP_000480.3:p.Glu1451Gln
NM_138270.5:c.4237G>C	NP_612114.2:p.Glu1413Gln