Canonical Allele Identifier: CA511025817
Gene: SALL4 HGNC NCBI

Linked Data

dbSNP Id: rs2077976836
MyVariant Identifiers: chr20:g.50400993C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.51784454C>T , CM000682.2:g.51784454C>T GRCh38
NC_000020.10:g.50400993C>T , CM000682.1:g.50400993C>T GRCh37
NC_000020.9:g.49834400C>T NCBI36
NG_008000.1:g.23056G>A , LRG_675:g.23056G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000217086.9:c.2973G>A MANE Select ENSP00000217086.4:p.Gln991=
ENST00000217086.8:c.2973G>A ENSP00000217086.4:p.Gln991=
ENST00000371539.7:c.642G>A ENSP00000360594.3:p.Gln214=
ENST00000395997.3:c.1662G>A ENSP00000379319.3:p.Gln554=
NM_020436.3:c.2973G>A , LRG_675t1:c.2973G>A NP_065169.1:p.Gln991=
XM_005260467.2:c.2667G>A XP_005260524.1:p.Gln889=
XM_006723834.2:c.2667G>A XP_006723897.1:p.Gln889=
XM_011528919.1:c.2847G>A XP_011527221.1:p.Gln949=
XM_011528920.1:c.2667G>A XP_011527222.1:p.Gln889=
XM_011528921.1:c.2667G>A XP_011527223.1:p.Gln889=
XM_011528922.1:c.2667G>A XP_011527224.1:p.Gln889=
XM_011528923.1:c.1662G>A XP_011527225.1:p.Gln554=
NM_001318031.1:c.1662G>A NP_001304960.1:p.Gln554=
NM_020436.4:c.2973G>A NP_065169.1:p.Gln991=
XM_005260467.4:c.2667G>A XP_005260524.1:p.Gln889=
XM_011528921.2:c.2667G>A XP_011527223.1:p.Gln889=
XM_011528922.2:c.2667G>A XP_011527224.1:p.Gln889=
NM_020436.5:c.2973G>A MANE Select NP_065169.1:p.Gln991=
NM_001318031.2:c.1662G>A NP_001304960.1:p.Gln554=