Canonical Allele Identifier: CA315366236

Gene: SALL4

Linked Data

• dbSNP Id: rs549557742
• gnomAD v3: 20-51784581-A-G
• gnomAD v4: 20-51784581-A-G
• MyVariant Identifiers: chr20:g.50401120A>G (hg19) ; chr20:g.51784581A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.51784581A>G , CM000682.2:g.51784581A>G	GRCh38
NC_000020.10:g.50401120A>G , CM000682.1:g.50401120A>G	GRCh37
NC_000020.9:g.49834527A>G	NCBI36
NG_008000.1:g.22929T>C , LRG_675:g.22929T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217086.9:c.2846T>C MANE Select	ENSP00000217086.4:p.Val949Ala
ENST00000217086.8:c.2846T>C	ENSP00000217086.4:p.Val949Ala
ENST00000371539.7:c.515T>C	ENSP00000360594.3:p.Val172Ala
ENST00000395997.3:c.1535T>C	ENSP00000379319.3:p.Val512Ala
NM_020436.3:c.2846T>C , LRG_675t1:c.2846T>C	NP_065169.1:p.Val949Ala
XM_005260467.2:c.2540T>C	XP_005260524.1:p.Val847Ala
XM_006723834.2:c.2540T>C	XP_006723897.1:p.Val847Ala
XM_011528919.1:c.2720T>C	XP_011527221.1:p.Val907Ala
XM_011528920.1:c.2540T>C	XP_011527222.1:p.Val847Ala
XM_011528921.1:c.2540T>C	XP_011527223.1:p.Val847Ala
XM_011528922.1:c.2540T>C	XP_011527224.1:p.Val847Ala
XM_011528923.1:c.1535T>C	XP_011527225.1:p.Val512Ala
NM_001318031.1:c.1535T>C	NP_001304960.1:p.Val512Ala
NM_020436.4:c.2846T>C	NP_065169.1:p.Val949Ala
XM_005260467.4:c.2540T>C	XP_005260524.1:p.Val847Ala
XM_011528921.2:c.2540T>C	XP_011527223.1:p.Val847Ala
XM_011528922.2:c.2540T>C	XP_011527224.1:p.Val847Ala
NM_020436.5:c.2846T>C MANE Select	NP_065169.1:p.Val949Ala
NM_001318031.2:c.1535T>C	NP_001304960.1:p.Val512Ala