Canonical Allele Identifier: CA517377233

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76944350G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77688857G>T , CM000685.2:g.77688857G>T	GRCh38
NC_000023.10:g.76944350G>T , CM000685.1:g.76944350G>T	GRCh37
NC_000023.9:g.76831006G>T	NCBI36
NG_008838.2:g.102365C>A
NG_008838.3:g.102413C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.555C>A MANE Select	ENSP00000362441.4:p.Ser185=
ENST00000373344.9:c.555C>A	ENSP00000362441.4:p.Ser185=
ENST00000395603.7:c.441C>A	ENSP00000378967.3:p.Ser147=
ENST00000480283.5:c.*183C>A	ENSP00000480196.1:n.*183C>A
ENST00000623321.3:c.390C>A	ENSP00000485127.1:p.Ser130=
ENST00000624032.3:c.555C>A	ENSP00000485253.1:p.Ser185=
ENST00000624166.3:c.438C>A	ENSP00000485103.1:p.Ser146=
ENST00000624668.3:c.276C>A	ENSP00000485100.1:p.Ser92=
ENST00000625063.3:c.370C>A
NM_000489.4:c.555C>A	NP_000480.3:p.Ser185=
NM_138270.3:c.441C>A	NP_612114.2:p.Ser147=
XM_005262153.3:c.552C>A	XP_005262210.2:p.Ser184=
XM_005262154.3:c.555C>A	XP_005262211.2:p.Ser185=
XM_005262155.3:c.438C>A	XP_005262212.2:p.Ser146=
XM_005262156.3:c.390C>A	XP_005262213.2:p.Ser130=
XM_005262157.3:c.438C>A	XP_005262214.2:p.Ser146=
XM_006724666.2:c.438C>A	XP_006724729.1:p.Ser146=
XM_006724667.2:c.276C>A	XP_006724730.1:p.Ser92=
XM_006724668.2:c.555C>A	XP_006724731.1:p.Ser185=
XR_938400.1:n.823C>A
NM_000489.5:c.555C>A	NP_000480.3:p.Ser185=
XM_005262153.5:c.552C>A	XP_005262210.2:p.Ser184=
XM_005262154.5:c.555C>A	XP_005262211.2:p.Ser185=
XM_005262155.4:c.438C>A	XP_005262212.2:p.Ser146=
XM_005262156.4:c.390C>A	XP_005262213.2:p.Ser130=
XM_005262157.5:c.438C>A	XP_005262214.2:p.Ser146=
XM_006724666.4:c.438C>A	XP_006724729.1:p.Ser146=
XM_006724667.3:c.276C>A	XP_006724730.1:p.Ser92=
XM_006724668.3:c.555C>A	XP_006724731.1:p.Ser185=
XM_017029601.2:c.552C>A	XP_016885090.1:p.Ser184=
XM_017029602.1:c.435C>A	XP_016885091.1:p.Ser145=
XM_017029603.1:c.387C>A	XP_016885092.1:p.Ser129=
XM_017029604.2:c.441C>A	XP_016885093.1:p.Ser147=
XM_017029605.1:c.438C>A	XP_016885094.1:p.Ser146=
XM_017029606.2:c.324C>A	XP_016885095.1:p.Ser108=
XM_017029607.2:c.321C>A	XP_016885096.1:p.Ser107=
XM_017029608.2:c.273C>A	XP_016885097.1:p.Ser91=
XM_017029609.1:c.324C>A	XP_016885098.1:p.Ser108=
XM_017029610.1:c.321C>A	XP_016885099.1:p.Ser107=
XM_017029611.1:c.276C>A	XP_016885100.1:p.Ser92=
XR_001755700.2:n.780C>A
NM_138270.4:c.441C>A	NP_612114.2:p.Ser147=
NM_000489.6:c.555C>A MANE Select	NP_000480.3:p.Ser185=
NM_138270.5:c.441C>A	NP_612114.2:p.Ser147=