Canonical Allele Identifier: CA409006472

Gene: SALL4

Linked Data

• gnomAD v4: 20-51788878-T-C
• MyVariant Identifiers: chr20:g.50405417T>C (hg19) ; chr20:g.51788878T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.51788878T>C , CM000682.2:g.51788878T>C	GRCh38
NC_000020.10:g.50405417T>C , CM000682.1:g.50405417T>C	GRCh37
NC_000020.9:g.49838824T>C	NCBI36
NG_008000.1:g.18632A>G , LRG_675:g.18632A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000217086.9:c.2725A>G MANE Select	ENSP00000217086.4:p.Thr909Ala
ENST00000217086.8:c.2725A>G	ENSP00000217086.4:p.Thr909Ala
ENST00000371539.7:c.394A>G	ENSP00000360594.3:p.Thr132Ala
ENST00000395997.3:c.1414A>G	ENSP00000379319.3:p.Thr472Ala
NM_020436.3:c.2725A>G , LRG_675t1:c.2725A>G	NP_065169.1:p.Thr909Ala
XM_005260467.2:c.2419A>G	XP_005260524.1:p.Thr807Ala
XM_006723834.2:c.2419A>G	XP_006723897.1:p.Thr807Ala
XM_011528919.1:c.2599A>G	XP_011527221.1:p.Thr867Ala
XM_011528920.1:c.2419A>G	XP_011527222.1:p.Thr807Ala
XM_011528921.1:c.2419A>G	XP_011527223.1:p.Thr807Ala
XM_011528922.1:c.2419A>G	XP_011527224.1:p.Thr807Ala
XM_011528923.1:c.1414A>G	XP_011527225.1:p.Thr472Ala
NM_001318031.1:c.1414A>G	NP_001304960.1:p.Thr472Ala
NM_020436.4:c.2725A>G	NP_065169.1:p.Thr909Ala
XM_005260467.4:c.2419A>G	XP_005260524.1:p.Thr807Ala
XM_011528921.2:c.2419A>G	XP_011527223.1:p.Thr807Ala
XM_011528922.2:c.2419A>G	XP_011527224.1:p.Thr807Ala
NM_020436.5:c.2725A>G MANE Select	NP_065169.1:p.Thr909Ala
NM_001318031.2:c.1414A>G	NP_001304960.1:p.Thr472Ala