Canonical Allele Identifier: CA413720554

Gene: ATRX

Linked Data

• ClinVar Variation Id: 573611
• ClinVar RCV Id: RCV000695324
• dbSNP Id: rs1569539465
• MyVariant Identifiers: chrX:g.76939919C>G (hg19) ; chrX:g.77684427C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77684427C>G , CM000685.2:g.77684427C>G	GRCh38
NC_000023.10:g.76939919C>G , CM000685.1:g.76939919C>G	GRCh37
NC_000023.9:g.76826575C>G	NCBI36
NG_008838.2:g.106795G>C
NG_008838.3:g.106843G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.829G>C MANE Select	ENSP00000362441.4:p.Val277Leu
ENST00000373344.9:c.829G>C	ENSP00000362441.4:p.Val277Leu
ENST00000395603.7:c.715G>C	ENSP00000378967.3:p.Val239Leu
ENST00000480283.5:c.*457G>C	ENSP00000480196.1:n.*457G>C
ENST00000623321.3:c.664G>C	ENSP00000485127.1:p.Val222Leu
ENST00000624032.3:c.829G>C	ENSP00000485253.1:p.Val277Leu
ENST00000624166.3:c.712G>C	ENSP00000485103.1:p.Val238Leu
NM_000489.4:c.829G>C	NP_000480.3:p.Val277Leu
NM_138270.3:c.715G>C	NP_612114.2:p.Val239Leu
XM_005262153.3:c.826G>C	XP_005262210.2:p.Val276Leu
XM_005262154.3:c.829G>C	XP_005262211.2:p.Val277Leu
XM_005262155.3:c.712G>C	XP_005262212.2:p.Val238Leu
XM_005262156.3:c.664G>C	XP_005262213.2:p.Val222Leu
XM_005262157.3:c.712G>C	XP_005262214.2:p.Val238Leu
XM_006724666.2:c.712G>C	XP_006724729.1:p.Val238Leu
XM_006724667.2:c.550G>C	XP_006724730.1:p.Val184Leu
XM_006724668.2:c.829G>C	XP_006724731.1:p.Val277Leu
XR_938400.1:n.1097G>C
NM_000489.5:c.829G>C	NP_000480.3:p.Val277Leu
XM_005262153.5:c.826G>C	XP_005262210.2:p.Val276Leu
XM_005262154.5:c.829G>C	XP_005262211.2:p.Val277Leu
XM_005262155.4:c.712G>C	XP_005262212.2:p.Val238Leu
XM_005262156.4:c.664G>C	XP_005262213.2:p.Val222Leu
XM_005262157.5:c.712G>C	XP_005262214.2:p.Val238Leu
XM_006724666.4:c.712G>C	XP_006724729.1:p.Val238Leu
XM_006724667.3:c.550G>C	XP_006724730.1:p.Val184Leu
XM_006724668.3:c.829G>C	XP_006724731.1:p.Val277Leu
XM_017029601.2:c.826G>C	XP_016885090.1:p.Val276Leu
XM_017029602.1:c.709G>C	XP_016885091.1:p.Val237Leu
XM_017029603.1:c.661G>C	XP_016885092.1:p.Val221Leu
XM_017029604.2:c.715G>C	XP_016885093.1:p.Val239Leu
XM_017029605.1:c.712G>C	XP_016885094.1:p.Val238Leu
XM_017029606.2:c.598G>C	XP_016885095.1:p.Val200Leu
XM_017029607.2:c.595G>C	XP_016885096.1:p.Val199Leu
XM_017029608.2:c.547G>C	XP_016885097.1:p.Val183Leu
XM_017029609.1:c.598G>C	XP_016885098.1:p.Val200Leu
XM_017029610.1:c.595G>C	XP_016885099.1:p.Val199Leu
XM_017029611.1:c.550G>C	XP_016885100.1:p.Val184Leu
XR_001755700.2:n.1054G>C
NM_138270.4:c.715G>C	NP_612114.2:p.Val239Leu
NM_000489.6:c.829G>C MANE Select	NP_000480.3:p.Val277Leu
NM_138270.5:c.715G>C	NP_612114.2:p.Val239Leu