Canonical Allele Identifier: CA118793
Gene: SALL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7434
ClinVar RCV Id: RCV000007859 RCV000697040 RCV000989601
dbSNP Id: rs104894538
MyVariant Identifiers: chr16:g.51175166G>A (hg19) chr16:g.51141255G>A (hg38)
PubMed: PMID:10928856 PMID:14755477
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.51141255G>A , CM000678.2:g.51141255G>A GRCh38
NC_000016.9:g.51175166G>A , CM000678.1:g.51175166G>A GRCh37
NC_000016.8:g.49732667G>A NCBI36
NG_007990.1:g.15018C>T , LRG_674:g.15018C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000440970.6:c.967C>T ENSP00000407914.2:p.Gln323Ter
ENST00000570206.2:c.676C>T ENSP00000456777.2:p.Gln226Ter
ENST00000685868.1:c.967C>T ENSP00000509873.1:p.Gln323Ter
ENST00000690502.1:c.967C>T ENSP00000510560.1:p.Gln323Ter
ENST00000251020.9:c.967C>T MANE Select ENSP00000251020.4:p.Gln323Ter
ENST00000251020.8:c.967C>T ENSP00000251020.4:p.Gln323Ter
ENST00000440970.5:c.676C>T ENSP00000407914.1:p.Gln226Ter
ENST00000566102.1:c.77-3703C>T ENSP00000455582.1:n.77-3703C>T
ENST00000570206.1:c.676C>T ENSP00000456777.1:p.Gln226Ter
NM_001127892.1:c.676C>T NP_001121364.1:p.Gln226Ter
NM_002968.2:c.967C>T , LRG_674t1:c.967C>T NP_002959.2:p.Gln323Ter
XM_006721241.2:c.967C>T XP_006721304.1:p.Gln323Ter
XM_011523254.1:c.967C>T XP_011521556.1:p.Gln323Ter
XM_011523255.1:c.967C>T XP_011521557.1:p.Gln323Ter
NM_002968.3:c.967C>T MANE Select NP_002959.2:p.Gln323Ter
NM_001127892.2:c.676C>T NP_001121364.1:p.Gln226Ter
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