Canonical Allele Identifier: CA2222021578
Gene: SALL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.51141182G= , CM000678.2:g.51141182G= GRCh38
NC_000016.9:g.51175093G= , CM000678.1:g.51175093G= GRCh37
NC_000016.8:g.49732594G= NCBI36
NG_007990.1:g.15091C= , LRG_674:g.15091C=

Transcript Alleles

HGVS Amino-acid change
ENST00000440970.6:c.1040C= ENSP00000407914.2:p.Ala347=
ENST00000570206.2:c.749C= ENSP00000456777.2:p.Ala250=
ENST00000685868.1:c.1040C= ENSP00000509873.1:p.Ala347=
ENST00000690502.1:c.1040C= ENSP00000510560.1:p.Ala347=
ENST00000251020.9:c.1040C= MANE Select ENSP00000251020.4:p.Ala347=
ENST00000251020.8:c.1040C= ENSP00000251020.4:p.Ala347=
ENST00000440970.5:c.749C= ENSP00000407914.1:p.Ala250=
ENST00000566102.1:c.77-3630C= ENSP00000455582.1:n.77-3630C=
ENST00000570206.1:c.749C= ENSP00000456777.1:p.Ala250=
NM_001127892.1:c.749C= NP_001121364.1:p.Ala250=
NM_002968.2:c.1040C= , LRG_674t1:c.1040C= NP_002959.2:p.Ala347=
XM_006721241.2:c.1040C= XP_006721304.1:p.Ala347=
XM_011523254.1:c.1040C= XP_011521556.1:p.Ala347=
XM_011523255.1:c.1040C= XP_011521557.1:p.Ala347=
NM_002968.3:c.1040C= MANE Select NP_002959.2:p.Ala347=
NM_001127892.2:c.749C= NP_001121364.1:p.Ala250=