Canonical Allele Identifier: CA121655

Gene: ATRX

Linked Data

• ClinVar Variation Id: 11743
• ClinVar RCV Id: RCV000012509
• dbSNP Id: rs122445109
• MyVariant Identifiers: chrX:g.76939522A>G (hg19) ; chrX:g.77684030A>G (hg38)
• PubMed: PMID:15565397

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77684030A>G , CM000685.2:g.77684030A>G	GRCh38
NC_000023.10:g.76939522A>G , CM000685.1:g.76939522A>G	GRCh37
NC_000023.9:g.76826178A>G	NCBI36
NG_008838.2:g.107192T>C
NG_008838.3:g.107240T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.1226T>C MANE Select	ENSP00000362441.4:p.Leu409Ser
ENST00000373344.9:c.1226T>C	ENSP00000362441.4:p.Leu409Ser
ENST00000395603.7:c.1112T>C	ENSP00000378967.3:p.Leu371Ser
ENST00000480283.5:c.*854T>C	ENSP00000480196.1:n.*854T>C
ENST00000623321.3:c.1061T>C	ENSP00000485127.1:p.Leu354Ser
ENST00000624032.3:c.1226T>C	ENSP00000485253.1:p.Leu409Ser
ENST00000624166.3:c.1109T>C	ENSP00000485103.1:p.Leu370Ser
NM_000489.4:c.1226T>C	NP_000480.3:p.Leu409Ser
NM_138270.3:c.1112T>C	NP_612114.2:p.Leu371Ser
XM_005262153.3:c.1223T>C	XP_005262210.2:p.Leu408Ser
XM_005262154.3:c.1226T>C	XP_005262211.2:p.Leu409Ser
XM_005262155.3:c.1109T>C	XP_005262212.2:p.Leu370Ser
XM_005262156.3:c.1061T>C	XP_005262213.2:p.Leu354Ser
XM_005262157.3:c.1109T>C	XP_005262214.2:p.Leu370Ser
XM_006724666.2:c.1109T>C	XP_006724729.1:p.Leu370Ser
XM_006724667.2:c.947T>C	XP_006724730.1:p.Leu316Ser
XM_006724668.2:c.1226T>C	XP_006724731.1:p.Leu409Ser
XR_938400.1:n.1494T>C
NM_000489.5:c.1226T>C	NP_000480.3:p.Leu409Ser
XM_005262153.5:c.1223T>C	XP_005262210.2:p.Leu408Ser
XM_005262154.5:c.1226T>C	XP_005262211.2:p.Leu409Ser
XM_005262155.4:c.1109T>C	XP_005262212.2:p.Leu370Ser
XM_005262156.4:c.1061T>C	XP_005262213.2:p.Leu354Ser
XM_005262157.5:c.1109T>C	XP_005262214.2:p.Leu370Ser
XM_006724666.4:c.1109T>C	XP_006724729.1:p.Leu370Ser
XM_006724667.3:c.947T>C	XP_006724730.1:p.Leu316Ser
XM_006724668.3:c.1226T>C	XP_006724731.1:p.Leu409Ser
XM_017029601.2:c.1223T>C	XP_016885090.1:p.Leu408Ser
XM_017029602.1:c.1106T>C	XP_016885091.1:p.Leu369Ser
XM_017029603.1:c.1058T>C	XP_016885092.1:p.Leu353Ser
XM_017029604.2:c.1112T>C	XP_016885093.1:p.Leu371Ser
XM_017029605.1:c.1109T>C	XP_016885094.1:p.Leu370Ser
XM_017029606.2:c.995T>C	XP_016885095.1:p.Leu332Ser
XM_017029607.2:c.992T>C	XP_016885096.1:p.Leu331Ser
XM_017029608.2:c.944T>C	XP_016885097.1:p.Leu315Ser
XM_017029609.1:c.995T>C	XP_016885098.1:p.Leu332Ser
XM_017029610.1:c.992T>C	XP_016885099.1:p.Leu331Ser
XM_017029611.1:c.947T>C	XP_016885100.1:p.Leu316Ser
XR_001755700.2:n.1451T>C
NM_138270.4:c.1112T>C	NP_612114.2:p.Leu371Ser
NM_000489.6:c.1226T>C MANE Select	NP_000480.3:p.Leu409Ser
NM_138270.5:c.1112T>C	NP_612114.2:p.Leu371Ser