Canonical Allele Identifier: CA511025823
Gene: SALL4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.50400996G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.51784457G>A , CM000682.2:g.51784457G>A GRCh38
NC_000020.10:g.50400996G>A , CM000682.1:g.50400996G>A GRCh37
NC_000020.9:g.49834403G>A NCBI36
NG_008000.1:g.23053C>T , LRG_675:g.23053C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000217086.9:c.2970C>T MANE Select ENSP00000217086.4:p.Ile990=
ENST00000217086.8:c.2970C>T ENSP00000217086.4:p.Ile990=
ENST00000371539.7:c.639C>T ENSP00000360594.3:p.Ile213=
ENST00000395997.3:c.1659C>T ENSP00000379319.3:p.Ile553=
NM_020436.3:c.2970C>T , LRG_675t1:c.2970C>T NP_065169.1:p.Ile990=
XM_005260467.2:c.2664C>T XP_005260524.1:p.Ile888=
XM_006723834.2:c.2664C>T XP_006723897.1:p.Ile888=
XM_011528919.1:c.2844C>T XP_011527221.1:p.Ile948=
XM_011528920.1:c.2664C>T XP_011527222.1:p.Ile888=
XM_011528921.1:c.2664C>T XP_011527223.1:p.Ile888=
XM_011528922.1:c.2664C>T XP_011527224.1:p.Ile888=
XM_011528923.1:c.1659C>T XP_011527225.1:p.Ile553=
NM_001318031.1:c.1659C>T NP_001304960.1:p.Ile553=
NM_020436.4:c.2970C>T NP_065169.1:p.Ile990=
XM_005260467.4:c.2664C>T XP_005260524.1:p.Ile888=
XM_011528921.2:c.2664C>T XP_011527223.1:p.Ile888=
XM_011528922.2:c.2664C>T XP_011527224.1:p.Ile888=
NM_020436.5:c.2970C>T MANE Select NP_065169.1:p.Ile990=
NM_001318031.2:c.1659C>T NP_001304960.1:p.Ile553=