Canonical Allele Identifier: CA409006243

Gene: SALL4

Linked Data

• dbSNP Id: rs1368705511
• gnomAD v2: 20-50401139-C-G
• gnomAD v4: 20-51784600-C-G
• MyVariant Identifiers: chr20:g.50401139C>G (hg19) ; chr20:g.51784600C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.51784600C>G , CM000682.2:g.51784600C>G	GRCh38
NC_000020.10:g.50401139C>G , CM000682.1:g.50401139C>G	GRCh37
NC_000020.9:g.49834546C>G	NCBI36
NG_008000.1:g.22910G>C , LRG_675:g.22910G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000217086.9:c.2827G>C MANE Select	ENSP00000217086.4:p.Gly943Arg
ENST00000217086.8:c.2827G>C	ENSP00000217086.4:p.Gly943Arg
ENST00000371539.7:c.496G>C	ENSP00000360594.3:p.Gly166Arg
ENST00000395997.3:c.1516G>C	ENSP00000379319.3:p.Gly506Arg
NM_020436.3:c.2827G>C , LRG_675t1:c.2827G>C	NP_065169.1:p.Gly943Arg
XM_005260467.2:c.2521G>C	XP_005260524.1:p.Gly841Arg
XM_006723834.2:c.2521G>C	XP_006723897.1:p.Gly841Arg
XM_011528919.1:c.2701G>C	XP_011527221.1:p.Gly901Arg
XM_011528920.1:c.2521G>C	XP_011527222.1:p.Gly841Arg
XM_011528921.1:c.2521G>C	XP_011527223.1:p.Gly841Arg
XM_011528922.1:c.2521G>C	XP_011527224.1:p.Gly841Arg
XM_011528923.1:c.1516G>C	XP_011527225.1:p.Gly506Arg
NM_001318031.1:c.1516G>C	NP_001304960.1:p.Gly506Arg
NM_020436.4:c.2827G>C	NP_065169.1:p.Gly943Arg
XM_005260467.4:c.2521G>C	XP_005260524.1:p.Gly841Arg
XM_011528921.2:c.2521G>C	XP_011527223.1:p.Gly841Arg
XM_011528922.2:c.2521G>C	XP_011527224.1:p.Gly841Arg
NM_020436.5:c.2827G>C MANE Select	NP_065169.1:p.Gly943Arg
NM_001318031.2:c.1516G>C	NP_001304960.1:p.Gly506Arg