Canonical Allele Identifier: CA511025664
Gene: SALL4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.50401038G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.51784499G>C , CM000682.2:g.51784499G>C GRCh38
NC_000020.10:g.50401038G>C , CM000682.1:g.50401038G>C GRCh37
NC_000020.9:g.49834445G>C NCBI36
NG_008000.1:g.23011C>G , LRG_675:g.23011C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000217086.9:c.2928C>G MANE Select ENSP00000217086.4:p.Leu976=
ENST00000217086.8:c.2928C>G ENSP00000217086.4:p.Leu976=
ENST00000371539.7:c.597C>G ENSP00000360594.3:p.Leu199=
ENST00000395997.3:c.1617C>G ENSP00000379319.3:p.Leu539=
NM_020436.3:c.2928C>G , LRG_675t1:c.2928C>G NP_065169.1:p.Leu976=
XM_005260467.2:c.2622C>G XP_005260524.1:p.Leu874=
XM_006723834.2:c.2622C>G XP_006723897.1:p.Leu874=
XM_011528919.1:c.2802C>G XP_011527221.1:p.Leu934=
XM_011528920.1:c.2622C>G XP_011527222.1:p.Leu874=
XM_011528921.1:c.2622C>G XP_011527223.1:p.Leu874=
XM_011528922.1:c.2622C>G XP_011527224.1:p.Leu874=
XM_011528923.1:c.1617C>G XP_011527225.1:p.Leu539=
NM_001318031.1:c.1617C>G NP_001304960.1:p.Leu539=
NM_020436.4:c.2928C>G NP_065169.1:p.Leu976=
XM_005260467.4:c.2622C>G XP_005260524.1:p.Leu874=
XM_011528921.2:c.2622C>G XP_011527223.1:p.Leu874=
XM_011528922.2:c.2622C>G XP_011527224.1:p.Leu874=
NM_020436.5:c.2928C>G MANE Select NP_065169.1:p.Leu976=
NM_001318031.2:c.1617C>G NP_001304960.1:p.Leu539=