Canonical Allele Identifier: CA10988430
Gene: HSD3B1 HGNC NCBI
COSMIC:
COSN6504970 (not active)
MyVariant.info:
GRCh38 chr1:g.119508823G>A
GRCh37 chr1:g.120051446G>A
gnomAD v2:
1:120051446 G / A
gnomAD v3:
1:119508823 G / A
gnomAD v4:
chr1-119508823-G-A
Joint Max Group AF 0.85700699 (EAS)
Genomes Max Group AF 0.85700699 (EAS)
dbSNP:
3765945
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119508823G>A , CM000663.2:g.119508823G>A GRCh38
NC_000001.10:g.120051446G>A , CM000663.1:g.120051446G>A GRCh37
NC_000001.9:g.119852969G>A NCBI36
NG_050909.1:g.6712G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369413.8:c.145+1202G>A MANE Select ENSP00000358421.3:n.145+1202G>A
ENST00000369413.7:c.145+1202G>A ENSP00000358421.3:n.145+1202G>A
ENST00000492140.1:n.280+1202G>A
ENST00000528909.1:c.145+1202G>A ENSP00000432268.1:n.145+1202G>A
ENST00000531340.5:c.145+1202G>A ENSP00000435999.1:n.145+1202G>A
NM_000862.2:c.145+1202G>A NP_000853.1:n.145+1202G>A
XM_011541314.1:c.151+1202G>A XP_011539616.1:n.151+1202G>A
NM_001328615.1:c.145+1202G>A NP_001315544.1:n.145+1202G>A
NM_000862.3:c.145+1202G>A MANE Select NP_000853.1:n.145+1202G>A
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