Canonical Allele Identifier: CA5595625
Gene: SLC16A12 HGNC NCBI
SLC16A12-AS1 HGNC NCBI
COSMIC:
COSM3782559 (not active)
MyVariant.info:
GRCh38 chr10:g.89462530A>C
GRCh37 chr10:g.91222287A>C
Revel Score:
ENST00000371790 (MANE Select) 0.040
ENST00000475682 0.040
gnomAD v2:
10:91222287 A / C
gnomAD v3:
10:89462530 A / C
gnomAD v4:
chr10-89462530-A-C
Joint Max Group AF 0.18856332 (EAS)
Genomes Max Group AF 0.19720089 (EAS)
Exomes Max Group AF 0.18634483 (EAS)
ClinVar RCV:
RCV000841206
ClinVar Variation:
681342
dbSNP:
3740030
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89462530A>C , CM000672.2:g.89462530A>C GRCh38
NC_000010.10:g.91222287A>C , CM000672.1:g.91222287A>C GRCh37
NC_000010.9:g.91212267A>C NCBI36
NG_021179.1:g.78027T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371790.5:c.49T>G (SLC16A12) MANE Select ENSP00000360855.4:p.Trp17Gly
ENST00000371790.4:c.49T>G (SLC16A12) ENSP00000360855.4:p.Trp17Gly
ENST00000475682.1:c.49T>G (SLC16A12) ENSP00000436965.1:p.Trp17Gly
NM_213606.3:c.49T>G (SLC16A12) NP_998771.3:p.Trp17Gly
NR_120614.1:n.274A>C (SLC16A12-AS1)
XM_017016237.2:c.49T>G (SLC16A12) XP_016871726.1:p.Trp17Gly
XM_017016238.1:c.49T>G (SLC16A12) XP_016871727.1:p.Trp17Gly
XM_017016239.1:c.49T>G (SLC16A12) XP_016871728.1:p.Trp17Gly
XM_024447994.1:c.49T>G (SLC16A12) XP_024303762.1:p.Trp17Gly
NM_213606.4:c.49T>G (SLC16A12) MANE Select NP_998771.3:p.Trp17Gly
Search 100 bp 5'
Search 100 bp 3'