Canonical Allele Identifier: CA511025854
Gene: SALL4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.50401140T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.51784601T>C , CM000682.2:g.51784601T>C GRCh38
NC_000020.10:g.50401140T>C , CM000682.1:g.50401140T>C GRCh37
NC_000020.9:g.49834547T>C NCBI36
NG_008000.1:g.22909A>G , LRG_675:g.22909A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000217086.9:c.2826A>G MANE Select ENSP00000217086.4:p.Leu942=
ENST00000217086.8:c.2826A>G ENSP00000217086.4:p.Leu942=
ENST00000371539.7:c.495A>G ENSP00000360594.3:p.Leu165=
ENST00000395997.3:c.1515A>G ENSP00000379319.3:p.Leu505=
NM_020436.3:c.2826A>G , LRG_675t1:c.2826A>G NP_065169.1:p.Leu942=
XM_005260467.2:c.2520A>G XP_005260524.1:p.Leu840=
XM_006723834.2:c.2520A>G XP_006723897.1:p.Leu840=
XM_011528919.1:c.2700A>G XP_011527221.1:p.Leu900=
XM_011528920.1:c.2520A>G XP_011527222.1:p.Leu840=
XM_011528921.1:c.2520A>G XP_011527223.1:p.Leu840=
XM_011528922.1:c.2520A>G XP_011527224.1:p.Leu840=
XM_011528923.1:c.1515A>G XP_011527225.1:p.Leu505=
NM_001318031.1:c.1515A>G NP_001304960.1:p.Leu505=
NM_020436.4:c.2826A>G NP_065169.1:p.Leu942=
XM_005260467.4:c.2520A>G XP_005260524.1:p.Leu840=
XM_011528921.2:c.2520A>G XP_011527223.1:p.Leu840=
XM_011528922.2:c.2520A>G XP_011527224.1:p.Leu840=
NM_020436.5:c.2826A>G MANE Select NP_065169.1:p.Leu942=
NM_001318031.2:c.1515A>G NP_001304960.1:p.Leu505=