Canonical Allele Identifier: CA9911930

Gene: SALL4

Linked Data

• dbSNP Id: rs376560016
• ExAC: 20:50400897 G / T
• gnomAD v2: 20-50400897-G-T
• gnomAD v3: 20-51784358-G-T
• gnomAD v4: 20-51784358-G-T
• MyVariant Identifiers: chr20:g.50400897G>T (hg19) ; chr20:g.51784358G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.51784358G>T , CM000682.2:g.51784358G>T	GRCh38
NC_000020.10:g.50400897G>T , CM000682.1:g.50400897G>T	GRCh37
NC_000020.9:g.49834304G>T	NCBI36
NG_008000.1:g.23152C>A , LRG_675:g.23152C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000217086.9:c.3069C>A MANE Select	ENSP00000217086.4:p.Ile1023=
ENST00000217086.8:c.3069C>A	ENSP00000217086.4:p.Ile1023=
ENST00000371539.7:c.738C>A	ENSP00000360594.3:p.Ile246=
ENST00000395997.3:c.1758C>A	ENSP00000379319.3:p.Ile586=
NM_020436.3:c.3069C>A , LRG_675t1:c.3069C>A	NP_065169.1:p.Ile1023=
XM_005260467.2:c.2763C>A	XP_005260524.1:p.Ile921=
XM_006723834.2:c.2763C>A	XP_006723897.1:p.Ile921=
XM_011528919.1:c.2943C>A	XP_011527221.1:p.Ile981=
XM_011528920.1:c.2763C>A	XP_011527222.1:p.Ile921=
XM_011528921.1:c.2763C>A	XP_011527223.1:p.Ile921=
XM_011528922.1:c.2763C>A	XP_011527224.1:p.Ile921=
XM_011528923.1:c.1758C>A	XP_011527225.1:p.Ile586=
NM_001318031.1:c.1758C>A	NP_001304960.1:p.Ile586=
NM_020436.4:c.3069C>A	NP_065169.1:p.Ile1023=
XM_005260467.4:c.2763C>A	XP_005260524.1:p.Ile921=
XM_011528921.2:c.2763C>A	XP_011527223.1:p.Ile921=
XM_011528922.2:c.2763C>A	XP_011527224.1:p.Ile921=
NM_020436.5:c.3069C>A MANE Select	NP_065169.1:p.Ile1023=
NM_001318031.2:c.1758C>A	NP_001304960.1:p.Ile586=