Canonical Allele Identifier: CA413699591

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77663467C>G , CM000685.2:g.77663467C>G	GRCh38
NC_000023.10:g.76918956C>G , CM000685.1:g.76918956C>G	GRCh37
NC_000023.9:g.76805612C>G	NCBI36
NG_008838.2:g.127755G>C
NG_008838.3:g.127803G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.4035G>C MANE Select	NP_000480.3:p.Leu1345Phe
ENST00000373344.11:c.4035G>C MANE Select	ENSP00000362441.4:p.Leu1345Phe
NM_000489.4:c.4035G>C	NP_000480.3:p.Leu1345Phe
NM_000489.5:c.4035G>C	NP_000480.3:p.Leu1345Phe
NM_138270.3:c.3921G>C	NP_612114.2:p.Leu1307Phe
NM_138270.4:c.3921G>C	NP_612114.2:p.Leu1307Phe
NM_138270.5:c.3921G>C	NP_612114.2:p.Leu1307Phe
ENST00000373344.9:c.4035G>C	ENSP00000362441.4:p.Leu1345Phe
ENST00000395603.7:c.3921G>C	ENSP00000378967.3:p.Leu1307Phe
ENST00000480283.5:c.*3663G>C	ENSP00000480196.1:n.*3663G>C
ENST00000624166.3:c.3831G>C	ENSP00000485103.1:p.Leu1277Phe
XM_005262153.3:c.4032G>C	XP_005262210.2:p.Leu1344Phe
XM_005262153.5:c.4032G>C	XP_005262210.2:p.Leu1344Phe
XM_005262154.3:c.3948G>C	XP_005262211.2:p.Leu1316Phe
XM_005262154.5:c.3948G>C	XP_005262211.2:p.Leu1316Phe
XM_005262155.3:c.3918G>C	XP_005262212.2:p.Leu1306Phe
XM_005262155.4:c.3918G>C	XP_005262212.2:p.Leu1306Phe
XM_005262156.3:c.3870G>C	XP_005262213.2:p.Leu1290Phe
XM_005262156.4:c.3870G>C	XP_005262213.2:p.Leu1290Phe
XM_005262157.3:c.3831G>C	XP_005262214.2:p.Leu1277Phe
XM_005262157.5:c.3831G>C	XP_005262214.2:p.Leu1277Phe
XM_006724666.2:c.3918G>C	XP_006724729.1:p.Leu1306Phe
XM_006724666.4:c.3918G>C	XP_006724729.1:p.Leu1306Phe
XM_006724667.2:c.3756G>C	XP_006724730.1:p.Leu1252Phe
XM_006724667.3:c.3756G>C	XP_006724730.1:p.Leu1252Phe
XM_006724668.2:c.4035G>C	XP_006724731.1:p.Leu1345Phe
XM_006724668.3:c.4035G>C	XP_006724731.1:p.Leu1345Phe
XM_017029601.2:c.3945G>C	XP_016885090.1:p.Leu1315Phe
XM_017029602.1:c.3915G>C	XP_016885091.1:p.Leu1305Phe
XM_017029603.1:c.3867G>C	XP_016885092.1:p.Leu1289Phe
XM_017029604.2:c.3834G>C	XP_016885093.1:p.Leu1278Phe
XM_017029605.1:c.3831G>C	XP_016885094.1:p.Leu1277Phe
XM_017029606.2:c.3804G>C	XP_016885095.1:p.Leu1268Phe
XM_017029607.2:c.3801G>C	XP_016885096.1:p.Leu1267Phe
XM_017029608.2:c.3753G>C	XP_016885097.1:p.Leu1251Phe
XM_017029609.1:c.3717G>C	XP_016885098.1:p.Leu1239Phe
XM_017029610.1:c.3714G>C	XP_016885099.1:p.Leu1238Phe
XM_017029611.1:c.3669G>C	XP_016885100.1:p.Leu1223Phe
XR_001755700.2:n.4260G>C
XR_938400.1:n.4303G>C