Canonical Allele Identifier: CA9911933

Gene: SALL4

Linked Data

• ClinVar Variation Id: 2380344
• ClinVar RCV Id: RCV002698088 ; RCV003607562
• dbSNP Id: rs147732522
• ExAC: 20:50400904 G / A
• gnomAD v2: 20-50400904-G-A
• gnomAD v3: 20-51784365-G-A
• gnomAD v4: 20-51784365-G-A
• MyVariant Identifiers: chr20:g.50400904G>A (hg19) ; chr20:g.51784365G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.51784365G>A , CM000682.2:g.51784365G>A	GRCh38
NC_000020.10:g.50400904G>A , CM000682.1:g.50400904G>A	GRCh37
NC_000020.9:g.49834311G>A	NCBI36
NG_008000.1:g.23145C>T , LRG_675:g.23145C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217086.9:c.3062C>T MANE Select	ENSP00000217086.4:p.Ser1021Leu
ENST00000217086.8:c.3062C>T	ENSP00000217086.4:p.Ser1021Leu
ENST00000371539.7:c.731C>T	ENSP00000360594.3:p.Ser244Leu
ENST00000395997.3:c.1751C>T	ENSP00000379319.3:p.Ser584Leu
NM_020436.3:c.3062C>T , LRG_675t1:c.3062C>T	NP_065169.1:p.Ser1021Leu
XM_005260467.2:c.2756C>T	XP_005260524.1:p.Ser919Leu
XM_006723834.2:c.2756C>T	XP_006723897.1:p.Ser919Leu
XM_011528919.1:c.2936C>T	XP_011527221.1:p.Ser979Leu
XM_011528920.1:c.2756C>T	XP_011527222.1:p.Ser919Leu
XM_011528921.1:c.2756C>T	XP_011527223.1:p.Ser919Leu
XM_011528922.1:c.2756C>T	XP_011527224.1:p.Ser919Leu
XM_011528923.1:c.1751C>T	XP_011527225.1:p.Ser584Leu
NM_001318031.1:c.1751C>T	NP_001304960.1:p.Ser584Leu
NM_020436.4:c.3062C>T	NP_065169.1:p.Ser1021Leu
XM_005260467.4:c.2756C>T	XP_005260524.1:p.Ser919Leu
XM_011528921.2:c.2756C>T	XP_011527223.1:p.Ser919Leu
XM_011528922.2:c.2756C>T	XP_011527224.1:p.Ser919Leu
NM_020436.5:c.3062C>T MANE Select	NP_065169.1:p.Ser1021Leu
NM_001318031.2:c.1751C>T	NP_001304960.1:p.Ser584Leu