Canonical Allele Identifier: CA413707792

Gene: ATRX

Linked Data

• dbSNP Id: rs2148435719
• COSMIC: COSM4949543 ; COSM4949544
• MyVariant Identifiers: chrX:g.76907630C>G (hg19) ; chrX:g.77652140C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652140C>G , CM000685.2:g.77652140C>G	GRCh38
NC_000023.10:g.76907630C>G , CM000685.1:g.76907630C>G	GRCh37
NC_000023.9:g.76794286C>G	NCBI36
NG_008838.2:g.139082G>C
NG_008838.3:g.139130G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4531G>C MANE Select	ENSP00000362441.4:p.Glu1511Gln
ENST00000373344.9:c.4531G>C	ENSP00000362441.4:p.Glu1511Gln
ENST00000395603.7:c.4417G>C	ENSP00000378967.3:p.Glu1473Gln
ENST00000460639.2:n.11G>C
ENST00000480283.5:c.*4159G>C	ENSP00000480196.1:n.*4159G>C
ENST00000623242.3:c.137G>C
NM_000489.4:c.4531G>C	NP_000480.3:p.Glu1511Gln
NM_138270.3:c.4417G>C	NP_612114.2:p.Glu1473Gln
XM_005262153.3:c.4528G>C	XP_005262210.2:p.Glu1510Gln
XM_005262154.3:c.4444G>C	XP_005262211.2:p.Glu1482Gln
XM_005262155.3:c.4414G>C	XP_005262212.2:p.Glu1472Gln
XM_005262156.3:c.4366G>C	XP_005262213.2:p.Glu1456Gln
XM_005262157.3:c.4327G>C	XP_005262214.2:p.Glu1443Gln
XM_006724666.2:c.4414G>C	XP_006724729.1:p.Glu1472Gln
XM_006724667.2:c.4252G>C	XP_006724730.1:p.Glu1418Gln
XM_006724668.2:c.4531G>C	XP_006724731.1:p.Glu1511Gln
XR_938400.1:n.4799G>C
NM_000489.5:c.4531G>C	NP_000480.3:p.Glu1511Gln
XM_005262153.5:c.4528G>C	XP_005262210.2:p.Glu1510Gln
XM_005262154.5:c.4444G>C	XP_005262211.2:p.Glu1482Gln
XM_005262155.4:c.4414G>C	XP_005262212.2:p.Glu1472Gln
XM_005262156.4:c.4366G>C	XP_005262213.2:p.Glu1456Gln
XM_005262157.5:c.4327G>C	XP_005262214.2:p.Glu1443Gln
XM_006724666.4:c.4414G>C	XP_006724729.1:p.Glu1472Gln
XM_006724667.3:c.4252G>C	XP_006724730.1:p.Glu1418Gln
XM_006724668.3:c.4531G>C	XP_006724731.1:p.Glu1511Gln
XM_017029601.2:c.4441G>C	XP_016885090.1:p.Glu1481Gln
XM_017029602.1:c.4411G>C	XP_016885091.1:p.Glu1471Gln
XM_017029603.1:c.4363G>C	XP_016885092.1:p.Glu1455Gln
XM_017029604.2:c.4330G>C	XP_016885093.1:p.Glu1444Gln
XM_017029605.1:c.4327G>C	XP_016885094.1:p.Glu1443Gln
XM_017029606.2:c.4300G>C	XP_016885095.1:p.Glu1434Gln
XM_017029607.2:c.4297G>C	XP_016885096.1:p.Glu1433Gln
XM_017029608.2:c.4249G>C	XP_016885097.1:p.Glu1417Gln
XM_017029609.1:c.4213G>C	XP_016885098.1:p.Glu1405Gln
XM_017029610.1:c.4210G>C	XP_016885099.1:p.Glu1404Gln
XM_017029611.1:c.4165G>C	XP_016885100.1:p.Glu1389Gln
XR_001755700.2:n.4756G>C
NM_138270.4:c.4417G>C	NP_612114.2:p.Glu1473Gln
NM_000489.6:c.4531G>C MANE Select	NP_000480.3:p.Glu1511Gln
NM_138270.5:c.4417G>C	NP_612114.2:p.Glu1473Gln