Canonical Allele Identifier: CA1035986
Gene: HSD3B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 292260
ClinVar RCV Id: RCV000360945 RCV000894296 RCV003930198
dbSNP Id: rs6207
ExAC: 1:119964625 G / A
gnomAD v2: 1-119964625-G-A
gnomAD v3: 1-119422002-G-A
gnomAD v4: 1-119422002-G-A
MyVariant Identifiers: chr1:g.119964625G>A (hg19) chr1:g.119422002G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422002G>A , CM000663.2:g.119422002G>A GRCh38
NC_000001.10:g.119964625G>A , CM000663.1:g.119964625G>A GRCh37
NC_000001.9:g.119766148G>A NCBI36
NG_013349.1:g.12072G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369416.4:c.501G>A MANE Select ENSP00000358424.3:p.Ala167=
ENST00000369416.3:c.501G>A ENSP00000358424.3:p.Ala167=
ENST00000433745.5:c.501G>A ENSP00000388292.1:p.Ala167=
ENST00000448448.2:n.445G>A
ENST00000543831.5:c.501G>A ENSP00000445122.1:p.Ala167=
NM_000198.3:c.501G>A NP_000189.1:p.Ala167=
NM_001166120.1:c.501G>A NP_001159592.1:p.Ala167=
NM_000198.4:c.501G>A MANE Select NP_000189.1:p.Ala167=
NM_001166120.2:c.501G>A NP_001159592.1:p.Ala167=
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