Canonical Allele Identifier: CA413722524

Gene: ATRX

Linked Data

• dbSNP Id: rs2071728503
• MyVariant Identifiers: chrX:g.76944351G>A (hg19) ; chrX:g.77688858G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77688858G>A , CM000685.2:g.77688858G>A	GRCh38
NC_000023.10:g.76944351G>A , CM000685.1:g.76944351G>A	GRCh37
NC_000023.9:g.76831007G>A	NCBI36
NG_008838.2:g.102364C>T
NG_008838.3:g.102412C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.554C>T MANE Select	ENSP00000362441.4:p.Ser185Phe
ENST00000373344.9:c.554C>T	ENSP00000362441.4:p.Ser185Phe
ENST00000395603.7:c.440C>T	ENSP00000378967.3:p.Ser147Phe
ENST00000480283.5:c.*182C>T	ENSP00000480196.1:n.*182C>T
ENST00000623321.3:c.389C>T	ENSP00000485127.1:p.Ser130Phe
ENST00000624032.3:c.554C>T	ENSP00000485253.1:p.Ser185Phe
ENST00000624166.3:c.437C>T	ENSP00000485103.1:p.Ser146Phe
ENST00000624668.3:c.275C>T	ENSP00000485100.1:p.Ser92Phe
ENST00000625063.3:c.369C>T
NM_000489.4:c.554C>T	NP_000480.3:p.Ser185Phe
NM_138270.3:c.440C>T	NP_612114.2:p.Ser147Phe
XM_005262153.3:c.551C>T	XP_005262210.2:p.Ser184Phe
XM_005262154.3:c.554C>T	XP_005262211.2:p.Ser185Phe
XM_005262155.3:c.437C>T	XP_005262212.2:p.Ser146Phe
XM_005262156.3:c.389C>T	XP_005262213.2:p.Ser130Phe
XM_005262157.3:c.437C>T	XP_005262214.2:p.Ser146Phe
XM_006724666.2:c.437C>T	XP_006724729.1:p.Ser146Phe
XM_006724667.2:c.275C>T	XP_006724730.1:p.Ser92Phe
XM_006724668.2:c.554C>T	XP_006724731.1:p.Ser185Phe
XR_938400.1:n.822C>T
NM_000489.5:c.554C>T	NP_000480.3:p.Ser185Phe
XM_005262153.5:c.551C>T	XP_005262210.2:p.Ser184Phe
XM_005262154.5:c.554C>T	XP_005262211.2:p.Ser185Phe
XM_005262155.4:c.437C>T	XP_005262212.2:p.Ser146Phe
XM_005262156.4:c.389C>T	XP_005262213.2:p.Ser130Phe
XM_005262157.5:c.437C>T	XP_005262214.2:p.Ser146Phe
XM_006724666.4:c.437C>T	XP_006724729.1:p.Ser146Phe
XM_006724667.3:c.275C>T	XP_006724730.1:p.Ser92Phe
XM_006724668.3:c.554C>T	XP_006724731.1:p.Ser185Phe
XM_017029601.2:c.551C>T	XP_016885090.1:p.Ser184Phe
XM_017029602.1:c.434C>T	XP_016885091.1:p.Ser145Phe
XM_017029603.1:c.386C>T	XP_016885092.1:p.Ser129Phe
XM_017029604.2:c.440C>T	XP_016885093.1:p.Ser147Phe
XM_017029605.1:c.437C>T	XP_016885094.1:p.Ser146Phe
XM_017029606.2:c.323C>T	XP_016885095.1:p.Ser108Phe
XM_017029607.2:c.320C>T	XP_016885096.1:p.Ser107Phe
XM_017029608.2:c.272C>T	XP_016885097.1:p.Ser91Phe
XM_017029609.1:c.323C>T	XP_016885098.1:p.Ser108Phe
XM_017029610.1:c.320C>T	XP_016885099.1:p.Ser107Phe
XM_017029611.1:c.275C>T	XP_016885100.1:p.Ser92Phe
XR_001755700.2:n.779C>T
NM_138270.4:c.440C>T	NP_612114.2:p.Ser147Phe
NM_000489.6:c.554C>T MANE Select	NP_000480.3:p.Ser185Phe
NM_138270.5:c.440C>T	NP_612114.2:p.Ser147Phe