Canonical Allele Identifier: CA7746050
Gene: SLCO3A1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.92104415G>C
GRCh37 chr15:g.92647645G>C
Revel Score:
ENST00000318445 (MANE Select) 0.134
ENST00000424469 0.134
ENST00000556649 0.134
ENST00000555549 0.134
gnomAD v2:
15:92647645 G / C
gnomAD v3:
15:92104415 G / C
gnomAD v4:
chr15-92104415-G-C
Joint Max Group AF 0.94967913 (EAS)
Genomes Max Group AF 0.93734792 (EAS)
Exomes Max Group AF 0.94889032 (EAS)
dbSNP:
1517618
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.92104415G>C , CM000677.2:g.92104415G>C GRCh38
NC_000015.9:g.92647645G>C , CM000677.1:g.92647645G>C GRCh37
NC_000015.8:g.90448649G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000318445.11:c.882G>C MANE Select ENSP00000320634.6:p.Glu294Asp
ENST00000318445.10:c.882G>C ENSP00000320634.6:p.Glu294Asp
ENST00000424469.2:c.882G>C ENSP00000387846.2:p.Glu294Asp
ENST00000553653.5:n.1068G>C
ENST00000555549.5:n.430G>C
ENST00000555769.5:n.777G>C
ENST00000556649.1:n.495G>C
NM_001145044.1:c.882G>C NP_001138516.1:p.Glu294Asp
NM_013272.3:c.882G>C NP_037404.2:p.Glu294Asp
XM_005254889.1:c.882G>C XP_005254946.1:p.Glu294Asp
XM_005254891.1:c.537G>C XP_005254948.1:p.Glu179Asp
XM_011521456.1:c.708G>C XP_011519758.1:p.Glu236Asp
XM_011521457.1:c.882G>C XP_011519759.1:p.Glu294Asp
XR_429450.2:n.802G>C
XR_931795.1:n.972G>C
XR_931796.1:n.972G>C
NR_135775.1:n.813G>C
XM_005254891.3:c.537G>C XP_005254948.1:p.Glu179Asp
XM_011521456.2:c.708G>C XP_011519758.1:p.Glu236Asp
XR_931796.2:n.972G>C
NM_013272.4:c.882G>C MANE Select NP_037404.2:p.Glu294Asp
NR_135775.2:n.809G>C
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