Canonical Allele Identifier: CA1036549
Gene: HSD3B1 HGNC NCBI
COSMIC:
COSM3747511 (not active)
MyVariant.info:
GRCh38 chr1:g.119514623C>A
GRCh37 chr1:g.120057246C>A
Revel Score:
ENST00000369413 (MANE Select) 0.126
ENST00000235547 0.126
ENST00000528909 0.126
gnomAD v2:
1:120057246 C / A
gnomAD v3:
1:119514623 C / A
gnomAD v4:
chr1-119514623-C-A
Joint Max Group AF 0.92942115 (EAS)
Genomes Max Group AF 0.90179505 (EAS)
Exomes Max Group AF 0.93065406 (EAS)
ClinVar RCV:
RCV001684992
ClinVar Variation:
1274004
dbSNP:
1047303
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119514623C>A , CM000663.2:g.119514623C>A GRCh38
NC_000001.10:g.120057246C>A , CM000663.1:g.120057246C>A GRCh37
NC_000001.9:g.119858769C>A NCBI36
NG_050909.1:g.12512C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369413.8:c.1100C>A MANE Select ENSP00000358421.3:p.Thr367Asn
ENST00000369413.7:c.1100C>A ENSP00000358421.3:p.Thr367Asn
ENST00000528909.1:c.1100C>A ENSP00000432268.1:p.Thr367Asn
NM_000862.2:c.1100C>A NP_000853.1:p.Thr367Asn
XM_011541314.1:c.1106C>A XP_011539616.1:p.Thr369Asn
NM_001328615.1:c.1100C>A NP_001315544.1:p.Thr367Asn
NM_000862.3:c.1100C>A MANE Select NP_000853.1:p.Thr367Asn
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