Canonical Allele Identifier: CA413720578

Gene: ATRX

Linked Data

• dbSNP Id: rs2148637262
• MyVariant Identifiers: chrX:g.76939929C>G (hg19) ; chrX:g.77684437C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77684437C>G , CM000685.2:g.77684437C>G	GRCh38
NC_000023.10:g.76939929C>G , CM000685.1:g.76939929C>G	GRCh37
NC_000023.9:g.76826585C>G	NCBI36
NG_008838.2:g.106785G>C
NG_008838.3:g.106833G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.819G>C MANE Select	ENSP00000362441.4:p.Leu273Phe
ENST00000373344.9:c.819G>C	ENSP00000362441.4:p.Leu273Phe
ENST00000395603.7:c.705G>C	ENSP00000378967.3:p.Leu235Phe
ENST00000480283.5:c.*447G>C	ENSP00000480196.1:n.*447G>C
ENST00000623321.3:c.654G>C	ENSP00000485127.1:p.Leu218Phe
ENST00000624032.3:c.819G>C	ENSP00000485253.1:p.Leu273Phe
ENST00000624166.3:c.702G>C	ENSP00000485103.1:p.Leu234Phe
NM_000489.4:c.819G>C	NP_000480.3:p.Leu273Phe
NM_138270.3:c.705G>C	NP_612114.2:p.Leu235Phe
XM_005262153.3:c.816G>C	XP_005262210.2:p.Leu272Phe
XM_005262154.3:c.819G>C	XP_005262211.2:p.Leu273Phe
XM_005262155.3:c.702G>C	XP_005262212.2:p.Leu234Phe
XM_005262156.3:c.654G>C	XP_005262213.2:p.Leu218Phe
XM_005262157.3:c.702G>C	XP_005262214.2:p.Leu234Phe
XM_006724666.2:c.702G>C	XP_006724729.1:p.Leu234Phe
XM_006724667.2:c.540G>C	XP_006724730.1:p.Leu180Phe
XM_006724668.2:c.819G>C	XP_006724731.1:p.Leu273Phe
XR_938400.1:n.1087G>C
NM_000489.5:c.819G>C	NP_000480.3:p.Leu273Phe
XM_005262153.5:c.816G>C	XP_005262210.2:p.Leu272Phe
XM_005262154.5:c.819G>C	XP_005262211.2:p.Leu273Phe
XM_005262155.4:c.702G>C	XP_005262212.2:p.Leu234Phe
XM_005262156.4:c.654G>C	XP_005262213.2:p.Leu218Phe
XM_005262157.5:c.702G>C	XP_005262214.2:p.Leu234Phe
XM_006724666.4:c.702G>C	XP_006724729.1:p.Leu234Phe
XM_006724667.3:c.540G>C	XP_006724730.1:p.Leu180Phe
XM_006724668.3:c.819G>C	XP_006724731.1:p.Leu273Phe
XM_017029601.2:c.816G>C	XP_016885090.1:p.Leu272Phe
XM_017029602.1:c.699G>C	XP_016885091.1:p.Leu233Phe
XM_017029603.1:c.651G>C	XP_016885092.1:p.Leu217Phe
XM_017029604.2:c.705G>C	XP_016885093.1:p.Leu235Phe
XM_017029605.1:c.702G>C	XP_016885094.1:p.Leu234Phe
XM_017029606.2:c.588G>C	XP_016885095.1:p.Leu196Phe
XM_017029607.2:c.585G>C	XP_016885096.1:p.Leu195Phe
XM_017029608.2:c.537G>C	XP_016885097.1:p.Leu179Phe
XM_017029609.1:c.588G>C	XP_016885098.1:p.Leu196Phe
XM_017029610.1:c.585G>C	XP_016885099.1:p.Leu195Phe
XM_017029611.1:c.540G>C	XP_016885100.1:p.Leu180Phe
XR_001755700.2:n.1044G>C
NM_138270.4:c.705G>C	NP_612114.2:p.Leu235Phe
NM_000489.6:c.819G>C MANE Select	NP_000480.3:p.Leu273Phe
NM_138270.5:c.705G>C	NP_612114.2:p.Leu235Phe