Canonical Allele Identifier: CA2633181044

Gene: SALL1

Linked Data

• gnomAD v4: 16-51138598-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51138598G>C , CM000678.2:g.51138598G>C	GRCh38
NC_000016.9:g.51172509G>C , CM000678.1:g.51172509G>C	GRCh37
NC_000016.8:g.49730010G>C	NCBI36
NG_007990.1:g.17675C>G , LRG_674:g.17675C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440970.6:c.3534+90C>G	ENSP00000407914.2:n.3534+90C>G
ENST00000570206.2:c.3243+90C>G	ENSP00000456777.2:n.3243+90C>G
ENST00000685868.1:c.3534+90C>G	ENSP00000509873.1:n.3534+90C>G
ENST00000690502.1:c.3624C>G	ENSP00000510560.1:n.3624C>G
ENST00000251020.9:c.3534+90C>G MANE Select	ENSP00000251020.4:n.3534+90C>G
ENST00000251020.8:c.3534+90C>G	ENSP00000251020.4:n.3534+90C>G
ENST00000440970.5:c.3243+90C>G	ENSP00000407914.1:n.3243+90C>G
ENST00000566102.1:c.77-1046C>G	ENSP00000455582.1:n.77-1046C>G
ENST00000570206.1:c.3243+90C>G	ENSP00000456777.1:n.3243+90C>G
NM_001127892.1:c.3243+90C>G	NP_001121364.1:n.3243+90C>G
NM_002968.2:c.3534+90C>G , LRG_674t1:c.3534+90C>G	NP_002959.2:n.3534+90C>G
XM_006721241.2:c.3534+90C>G	XP_006721304.1:n.3534+90C>G
XM_011523254.1:c.3534+90C>G	XP_011521556.1:n.3534+90C>G
XM_011523255.1:c.3534+90C>G	XP_011521557.1:n.3534+90C>G
NM_002968.3:c.3534+90C>G MANE Select	NP_002959.2:n.3534+90C>G
NM_001127892.2:c.3243+90C>G	NP_001121364.1:n.3243+90C>G