Canonical Allele Identifier: CA315365909

Gene: SALL4

Linked Data

• dbSNP Id: rs960063751
• gnomAD v4: 20-51784411-A-G
• MyVariant Identifiers: chr20:g.50400950A>G (hg19) ; chr20:g.51784411A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.51784411A>G , CM000682.2:g.51784411A>G	GRCh38
NC_000020.10:g.50400950A>G , CM000682.1:g.50400950A>G	GRCh37
NC_000020.9:g.49834357A>G	NCBI36
NG_008000.1:g.23099T>C , LRG_675:g.23099T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217086.9:c.3016T>C MANE Select	ENSP00000217086.4:p.Ser1006Pro
ENST00000217086.8:c.3016T>C	ENSP00000217086.4:p.Ser1006Pro
ENST00000371539.7:c.685T>C	ENSP00000360594.3:p.Ser229Pro
ENST00000395997.3:c.1705T>C	ENSP00000379319.3:p.Ser569Pro
NM_020436.3:c.3016T>C , LRG_675t1:c.3016T>C	NP_065169.1:p.Ser1006Pro
XM_005260467.2:c.2710T>C	XP_005260524.1:p.Ser904Pro
XM_006723834.2:c.2710T>C	XP_006723897.1:p.Ser904Pro
XM_011528919.1:c.2890T>C	XP_011527221.1:p.Ser964Pro
XM_011528920.1:c.2710T>C	XP_011527222.1:p.Ser904Pro
XM_011528921.1:c.2710T>C	XP_011527223.1:p.Ser904Pro
XM_011528922.1:c.2710T>C	XP_011527224.1:p.Ser904Pro
XM_011528923.1:c.1705T>C	XP_011527225.1:p.Ser569Pro
NM_001318031.1:c.1705T>C	NP_001304960.1:p.Ser569Pro
NM_020436.4:c.3016T>C	NP_065169.1:p.Ser1006Pro
XM_005260467.4:c.2710T>C	XP_005260524.1:p.Ser904Pro
XM_011528921.2:c.2710T>C	XP_011527223.1:p.Ser904Pro
XM_011528922.2:c.2710T>C	XP_011527224.1:p.Ser904Pro
NM_020436.5:c.3016T>C MANE Select	NP_065169.1:p.Ser1006Pro
NM_001318031.2:c.1705T>C	NP_001304960.1:p.Ser569Pro