Canonical Allele Identifier: CA721411186

Gene: SALL1

Linked Data

• dbSNP Id: rs1178987258
• gnomAD v3: 16-51136465-C-T
• gnomAD v4: 16-51136465-C-T
• MyVariant Identifiers: chr16:g.51170376C>T (hg19) ; chr16:g.51136465C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51136465C>T , CM000678.2:g.51136465C>T	GRCh38
NC_000016.9:g.51170376C>T , CM000678.1:g.51170376C>T	GRCh37
NC_000016.8:g.49727877C>T	NCBI36
NG_007990.1:g.19808G>A , LRG_674:g.19808G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000440970.6:c.*647G>A	ENSP00000407914.2:n.*647G>A
ENST00000685868.1:c.*647G>A	ENSP00000509873.1:n.*647G>A
ENST00000251020.9:c.*647G>A MANE Select	ENSP00000251020.4:n.*647G>A
ENST00000251020.8:c.*647G>A	ENSP00000251020.4:n.*647G>A
ENST00000440970.5:c.*647G>A	ENSP00000407914.1:n.*647G>A
NM_001127892.1:c.*647G>A	NP_001121364.1:n.*647G>A
NM_002968.2:c.*647G>A , LRG_674t1:c.*647G>A	NP_002959.2:n.*647G>A
XM_006721241.2:c.*647G>A	XP_006721304.1:n.*647G>A
XM_011523254.1:c.*647G>A	XP_011521556.1:n.*647G>A
XM_011523255.1:c.*647G>A	XP_011521557.1:n.*647G>A
NM_002968.3:c.*647G>A MANE Select	NP_002959.2:n.*647G>A
NM_001127892.2:c.*647G>A	NP_001121364.1:n.*647G>A