Canonical Allele Identifier: CA409006029
Gene: SALL4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.51784501G>T , CM000682.2:g.51784501G>T GRCh38
NC_000020.10:g.50401040G>T , CM000682.1:g.50401040G>T GRCh37
NC_000020.9:g.49834447G>T NCBI36
NG_008000.1:g.23009C>A , LRG_675:g.23009C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000217086.9:c.2926C>A MANE Select ENSP00000217086.4:p.Leu976Ile
ENST00000217086.8:c.2926C>A ENSP00000217086.4:p.Leu976Ile
ENST00000371539.7:c.595C>A ENSP00000360594.3:p.Leu199Ile
ENST00000395997.3:c.1615C>A ENSP00000379319.3:p.Leu539Ile
NM_020436.3:c.2926C>A , LRG_675t1:c.2926C>A NP_065169.1:p.Leu976Ile
XM_005260467.2:c.2620C>A XP_005260524.1:p.Leu874Ile
XM_006723834.2:c.2620C>A XP_006723897.1:p.Leu874Ile
XM_011528919.1:c.2800C>A XP_011527221.1:p.Leu934Ile
XM_011528920.1:c.2620C>A XP_011527222.1:p.Leu874Ile
XM_011528921.1:c.2620C>A XP_011527223.1:p.Leu874Ile
XM_011528922.1:c.2620C>A XP_011527224.1:p.Leu874Ile
XM_011528923.1:c.1615C>A XP_011527225.1:p.Leu539Ile
NM_001318031.1:c.1615C>A NP_001304960.1:p.Leu539Ile
NM_020436.4:c.2926C>A NP_065169.1:p.Leu976Ile
XM_005260467.4:c.2620C>A XP_005260524.1:p.Leu874Ile
XM_011528921.2:c.2620C>A XP_011527223.1:p.Leu874Ile
XM_011528922.2:c.2620C>A XP_011527224.1:p.Leu874Ile
NM_020436.5:c.2926C>A MANE Select NP_065169.1:p.Leu976Ile
NM_001318031.2:c.1615C>A NP_001304960.1:p.Leu539Ile