Canonical Allele Identifier: CA413720576

Gene: ATRX

Linked Data

• dbSNP Id: rs146012355
• MyVariant Identifiers: chrX:g.76939928A>C (hg19) ; chrX:g.77684436A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77684436A>C , CM000685.2:g.77684436A>C	GRCh38
NC_000023.10:g.76939928A>C , CM000685.1:g.76939928A>C	GRCh37
NC_000023.9:g.76826584A>C	NCBI36
NG_008838.2:g.106786T>G
NG_008838.3:g.106834T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.820T>G MANE Select	ENSP00000362441.4:p.Leu274Val
ENST00000373344.9:c.820T>G	ENSP00000362441.4:p.Leu274Val
ENST00000395603.7:c.706T>G	ENSP00000378967.3:p.Leu236Val
ENST00000480283.5:c.*448T>G	ENSP00000480196.1:n.*448T>G
ENST00000623321.3:c.655T>G	ENSP00000485127.1:p.Leu219Val
ENST00000624032.3:c.820T>G	ENSP00000485253.1:p.Leu274Val
ENST00000624166.3:c.703T>G	ENSP00000485103.1:p.Leu235Val
NM_000489.4:c.820T>G	NP_000480.3:p.Leu274Val
NM_138270.3:c.706T>G	NP_612114.2:p.Leu236Val
XM_005262153.3:c.817T>G	XP_005262210.2:p.Leu273Val
XM_005262154.3:c.820T>G	XP_005262211.2:p.Leu274Val
XM_005262155.3:c.703T>G	XP_005262212.2:p.Leu235Val
XM_005262156.3:c.655T>G	XP_005262213.2:p.Leu219Val
XM_005262157.3:c.703T>G	XP_005262214.2:p.Leu235Val
XM_006724666.2:c.703T>G	XP_006724729.1:p.Leu235Val
XM_006724667.2:c.541T>G	XP_006724730.1:p.Leu181Val
XM_006724668.2:c.820T>G	XP_006724731.1:p.Leu274Val
XR_938400.1:n.1088T>G
NM_000489.5:c.820T>G	NP_000480.3:p.Leu274Val
XM_005262153.5:c.817T>G	XP_005262210.2:p.Leu273Val
XM_005262154.5:c.820T>G	XP_005262211.2:p.Leu274Val
XM_005262155.4:c.703T>G	XP_005262212.2:p.Leu235Val
XM_005262156.4:c.655T>G	XP_005262213.2:p.Leu219Val
XM_005262157.5:c.703T>G	XP_005262214.2:p.Leu235Val
XM_006724666.4:c.703T>G	XP_006724729.1:p.Leu235Val
XM_006724667.3:c.541T>G	XP_006724730.1:p.Leu181Val
XM_006724668.3:c.820T>G	XP_006724731.1:p.Leu274Val
XM_017029601.2:c.817T>G	XP_016885090.1:p.Leu273Val
XM_017029602.1:c.700T>G	XP_016885091.1:p.Leu234Val
XM_017029603.1:c.652T>G	XP_016885092.1:p.Leu218Val
XM_017029604.2:c.706T>G	XP_016885093.1:p.Leu236Val
XM_017029605.1:c.703T>G	XP_016885094.1:p.Leu235Val
XM_017029606.2:c.589T>G	XP_016885095.1:p.Leu197Val
XM_017029607.2:c.586T>G	XP_016885096.1:p.Leu196Val
XM_017029608.2:c.538T>G	XP_016885097.1:p.Leu180Val
XM_017029609.1:c.589T>G	XP_016885098.1:p.Leu197Val
XM_017029610.1:c.586T>G	XP_016885099.1:p.Leu196Val
XM_017029611.1:c.541T>G	XP_016885100.1:p.Leu181Val
XR_001755700.2:n.1045T>G
NM_138270.4:c.706T>G	NP_612114.2:p.Leu236Val
NM_000489.6:c.820T>G MANE Select	NP_000480.3:p.Leu274Val
NM_138270.5:c.706T>G	NP_612114.2:p.Leu236Val