Canonical Allele Identifier: CA233222
Gene: HSD3B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 156430
ClinVar RCV Id: RCV000144493
dbSNP Id: rs587776503
ExAC: 1:120056858 A / T
gnomAD v2: 1-120056858-A-T
gnomAD v3: 1-119514235-A-T
gnomAD v4: 1-119514235-A-T
COSMIC: COSM5425700
MyVariant Identifiers: chr1:g.120056858A>T (hg19) chr1:g.119514235A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119514235A>T , CM000663.2:g.119514235A>T GRCh38
NC_000001.10:g.120056858A>T , CM000663.1:g.120056858A>T GRCh37
NC_000001.9:g.119858381A>T NCBI36
NG_050909.1:g.12124A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369413.8:c.712A>T MANE Select ENSP00000358421.3:p.Arg238Trp
ENST00000369413.7:c.712A>T ENSP00000358421.3:p.Arg238Trp
ENST00000528909.1:c.712A>T ENSP00000432268.1:p.Arg238Trp
NM_000862.2:c.712A>T NP_000853.1:p.Arg238Trp
XM_011541314.1:c.718A>T XP_011539616.1:p.Arg240Trp
NM_001328615.1:c.712A>T NP_001315544.1:p.Arg238Trp
NM_000862.3:c.712A>T MANE Select NP_000853.1:p.Arg238Trp
Search 100 bp 5'
Search 100 bp 3'