Canonical Allele Identifier: CA745390466

Gene: SALL4

Linked Data

• dbSNP Id: rs1190225322
• gnomAD v3: 20-51784748-G-T
• gnomAD v4: 20-51784748-G-T
• MyVariant Identifiers: chr20:g.50401287G>T (hg19) ; chr20:g.51784748G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.51784748G>T , CM000682.2:g.51784748G>T	GRCh38
NC_000020.10:g.50401287G>T , CM000682.1:g.50401287G>T	GRCh37
NC_000020.9:g.49834694G>T	NCBI36
NG_008000.1:g.22762C>A , LRG_675:g.22762C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217086.9:c.2743-64C>A MANE Select	ENSP00000217086.4:n.2743-64C>A
ENST00000217086.8:c.2743-64C>A	ENSP00000217086.4:n.2743-64C>A
ENST00000371539.7:c.412-64C>A	ENSP00000360594.3:n.412-64C>A
ENST00000395997.3:c.1432-64C>A	ENSP00000379319.3:n.1432-64C>A
NM_020436.3:c.2743-64C>A , LRG_675t1:c.2743-64C>A	NP_065169.1:n.2743-64C>A
XM_005260467.2:c.2437-64C>A	XP_005260524.1:n.2437-64C>A
XM_006723834.2:c.2437-64C>A	XP_006723897.1:n.2437-64C>A
XM_011528919.1:c.2617-64C>A	XP_011527221.1:n.2617-64C>A
XM_011528920.1:c.2437-64C>A	XP_011527222.1:n.2437-64C>A
XM_011528921.1:c.2437-64C>A	XP_011527223.1:n.2437-64C>A
XM_011528922.1:c.2437-64C>A	XP_011527224.1:n.2437-64C>A
XM_011528923.1:c.1432-64C>A	XP_011527225.1:n.1432-64C>A
NM_001318031.1:c.1432-64C>A	NP_001304960.1:n.1432-64C>A
NM_020436.4:c.2743-64C>A	NP_065169.1:n.2743-64C>A
XM_005260467.4:c.2437-64C>A	XP_005260524.1:n.2437-64C>A
XM_011528921.2:c.2437-64C>A	XP_011527223.1:n.2437-64C>A
XM_011528922.2:c.2437-64C>A	XP_011527224.1:n.2437-64C>A
NM_020436.5:c.2743-64C>A MANE Select	NP_065169.1:n.2743-64C>A
NM_001318031.2:c.1432-64C>A	NP_001304960.1:n.1432-64C>A