Canonical Allele Identifier: CA413720580

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76939930A>C (hg19) ; chrX:g.77684438A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77684438A>C , CM000685.2:g.77684438A>C	GRCh38
NC_000023.10:g.76939930A>C , CM000685.1:g.76939930A>C	GRCh37
NC_000023.9:g.76826586A>C	NCBI36
NG_008838.2:g.106784T>G
NG_008838.3:g.106832T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.818T>G MANE Select	ENSP00000362441.4:p.Leu273Trp
ENST00000373344.9:c.818T>G	ENSP00000362441.4:p.Leu273Trp
ENST00000395603.7:c.704T>G	ENSP00000378967.3:p.Leu235Trp
ENST00000480283.5:c.*446T>G	ENSP00000480196.1:n.*446T>G
ENST00000623321.3:c.653T>G	ENSP00000485127.1:p.Leu218Trp
ENST00000624032.3:c.818T>G	ENSP00000485253.1:p.Leu273Trp
ENST00000624166.3:c.701T>G	ENSP00000485103.1:p.Leu234Trp
NM_000489.4:c.818T>G	NP_000480.3:p.Leu273Trp
NM_138270.3:c.704T>G	NP_612114.2:p.Leu235Trp
XM_005262153.3:c.815T>G	XP_005262210.2:p.Leu272Trp
XM_005262154.3:c.818T>G	XP_005262211.2:p.Leu273Trp
XM_005262155.3:c.701T>G	XP_005262212.2:p.Leu234Trp
XM_005262156.3:c.653T>G	XP_005262213.2:p.Leu218Trp
XM_005262157.3:c.701T>G	XP_005262214.2:p.Leu234Trp
XM_006724666.2:c.701T>G	XP_006724729.1:p.Leu234Trp
XM_006724667.2:c.539T>G	XP_006724730.1:p.Leu180Trp
XM_006724668.2:c.818T>G	XP_006724731.1:p.Leu273Trp
XR_938400.1:n.1086T>G
NM_000489.5:c.818T>G	NP_000480.3:p.Leu273Trp
XM_005262153.5:c.815T>G	XP_005262210.2:p.Leu272Trp
XM_005262154.5:c.818T>G	XP_005262211.2:p.Leu273Trp
XM_005262155.4:c.701T>G	XP_005262212.2:p.Leu234Trp
XM_005262156.4:c.653T>G	XP_005262213.2:p.Leu218Trp
XM_005262157.5:c.701T>G	XP_005262214.2:p.Leu234Trp
XM_006724666.4:c.701T>G	XP_006724729.1:p.Leu234Trp
XM_006724667.3:c.539T>G	XP_006724730.1:p.Leu180Trp
XM_006724668.3:c.818T>G	XP_006724731.1:p.Leu273Trp
XM_017029601.2:c.815T>G	XP_016885090.1:p.Leu272Trp
XM_017029602.1:c.698T>G	XP_016885091.1:p.Leu233Trp
XM_017029603.1:c.650T>G	XP_016885092.1:p.Leu217Trp
XM_017029604.2:c.704T>G	XP_016885093.1:p.Leu235Trp
XM_017029605.1:c.701T>G	XP_016885094.1:p.Leu234Trp
XM_017029606.2:c.587T>G	XP_016885095.1:p.Leu196Trp
XM_017029607.2:c.584T>G	XP_016885096.1:p.Leu195Trp
XM_017029608.2:c.536T>G	XP_016885097.1:p.Leu179Trp
XM_017029609.1:c.587T>G	XP_016885098.1:p.Leu196Trp
XM_017029610.1:c.584T>G	XP_016885099.1:p.Leu195Trp
XM_017029611.1:c.539T>G	XP_016885100.1:p.Leu180Trp
XR_001755700.2:n.1043T>G
NM_138270.4:c.704T>G	NP_612114.2:p.Leu235Trp
NM_000489.6:c.818T>G MANE Select	NP_000480.3:p.Leu273Trp
NM_138270.5:c.704T>G	NP_612114.2:p.Leu235Trp