Canonical Allele Identifier: CA10647673

Gene: SALL1

Linked Data

• dbSNP Id: rs116971887
• gnomAD v2: 16-51170026-G-T
• gnomAD v3: 16-51136115-G-T
• gnomAD v4: 16-51136115-G-T
• MyVariant Identifiers: chr16:g.51170026G>T (hg19) ; chr16:g.51136115G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51136115G>T , CM000678.2:g.51136115G>T	GRCh38
NC_000016.9:g.51170026G>T , CM000678.1:g.51170026G>T	GRCh37
NC_000016.8:g.49727527G>T	NCBI36
NG_007990.1:g.20158C>A , LRG_674:g.20158C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440970.6:c.*997C>A	ENSP00000407914.2:n.*997C>A
ENST00000685868.1:c.*997C>A	ENSP00000509873.1:n.*997C>A
ENST00000251020.9:c.*997C>A MANE Select	ENSP00000251020.4:n.*997C>A
ENST00000251020.8:c.*997C>A	ENSP00000251020.4:n.*997C>A
ENST00000440970.5:c.*997C>A	ENSP00000407914.1:n.*997C>A
NM_001127892.1:c.*997C>A	NP_001121364.1:n.*997C>A
NM_002968.2:c.*997C>A , LRG_674t1:c.*997C>A	NP_002959.2:n.*997C>A
XM_006721241.2:c.*997C>A	XP_006721304.1:n.*997C>A
XM_011523254.1:c.*997C>A	XP_011521556.1:n.*997C>A
XM_011523255.1:c.*997C>A	XP_011521557.1:n.*997C>A
NM_002968.3:c.*997C>A MANE Select	NP_002959.2:n.*997C>A
NM_001127892.2:c.*997C>A	NP_001121364.1:n.*997C>A