Canonical Allele Identifier: CA204872

Gene: ATRX

Linked Data

• ClinVar Variation Id: 11735
• ClinVar RCV Id: RCV000012501 ; RCV000078972 ; RCV000190796 ; RCV000763634 ; RCV001252427 ; RCV001249275
• dbSNP Id: rs122445105
• gnomAD v4: X-77684520-G-A
• COSMIC: COSM1740806 ; COSM1740807
• MyVariant Identifiers: chrX:g.76940012G>A (hg19) ; chrX:g.77684520G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77684520G>A , CM000685.2:g.77684520G>A	GRCh38
NC_000023.10:g.76940012G>A , CM000685.1:g.76940012G>A	GRCh37
NC_000023.9:g.76826668G>A	NCBI36
NG_008838.2:g.106702C>T
NG_008838.3:g.106750C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.736C>T MANE Select	ENSP00000362441.4:p.Arg246Cys
ENST00000373344.9:c.736C>T	ENSP00000362441.4:p.Arg246Cys
ENST00000395603.7:c.622C>T	ENSP00000378967.3:p.Arg208Cys
ENST00000480283.5:c.*364C>T	ENSP00000480196.1:n.*364C>T
ENST00000623321.3:c.571C>T	ENSP00000485127.1:p.Arg191Cys
ENST00000624032.3:c.736C>T	ENSP00000485253.1:p.Arg246Cys
ENST00000624166.3:c.619C>T	ENSP00000485103.1:p.Arg207Cys
ENST00000625063.3:c.551C>T
NM_000489.4:c.736C>T	NP_000480.3:p.Arg246Cys
NM_138270.3:c.622C>T	NP_612114.2:p.Arg208Cys
XM_005262153.3:c.733C>T	XP_005262210.2:p.Arg245Cys
XM_005262154.3:c.736C>T	XP_005262211.2:p.Arg246Cys
XM_005262155.3:c.619C>T	XP_005262212.2:p.Arg207Cys
XM_005262156.3:c.571C>T	XP_005262213.2:p.Arg191Cys
XM_005262157.3:c.619C>T	XP_005262214.2:p.Arg207Cys
XM_006724666.2:c.619C>T	XP_006724729.1:p.Arg207Cys
XM_006724667.2:c.457C>T	XP_006724730.1:p.Arg153Cys
XM_006724668.2:c.736C>T	XP_006724731.1:p.Arg246Cys
XR_938400.1:n.1004C>T
NM_000489.5:c.736C>T	NP_000480.3:p.Arg246Cys
XM_005262153.5:c.733C>T	XP_005262210.2:p.Arg245Cys
XM_005262154.5:c.736C>T	XP_005262211.2:p.Arg246Cys
XM_005262155.4:c.619C>T	XP_005262212.2:p.Arg207Cys
XM_005262156.4:c.571C>T	XP_005262213.2:p.Arg191Cys
XM_005262157.5:c.619C>T	XP_005262214.2:p.Arg207Cys
XM_006724666.4:c.619C>T	XP_006724729.1:p.Arg207Cys
XM_006724667.3:c.457C>T	XP_006724730.1:p.Arg153Cys
XM_006724668.3:c.736C>T	XP_006724731.1:p.Arg246Cys
XM_017029601.2:c.733C>T	XP_016885090.1:p.Arg245Cys
XM_017029602.1:c.616C>T	XP_016885091.1:p.Arg206Cys
XM_017029603.1:c.568C>T	XP_016885092.1:p.Arg190Cys
XM_017029604.2:c.622C>T	XP_016885093.1:p.Arg208Cys
XM_017029605.1:c.619C>T	XP_016885094.1:p.Arg207Cys
XM_017029606.2:c.505C>T	XP_016885095.1:p.Arg169Cys
XM_017029607.2:c.502C>T	XP_016885096.1:p.Arg168Cys
XM_017029608.2:c.454C>T	XP_016885097.1:p.Arg152Cys
XM_017029609.1:c.505C>T	XP_016885098.1:p.Arg169Cys
XM_017029610.1:c.502C>T	XP_016885099.1:p.Arg168Cys
XM_017029611.1:c.457C>T	XP_016885100.1:p.Arg153Cys
XR_001755700.2:n.961C>T
NM_138270.4:c.622C>T	NP_612114.2:p.Arg208Cys
NM_000489.6:c.736C>T MANE Select	NP_000480.3:p.Arg246Cys
NM_138270.5:c.622C>T	NP_612114.2:p.Arg208Cys