Canonical Allele Identifier: CA2647378897
Gene: HSD3B2 HGNC NCBI

Linked Data

gnomAD v4: 1-119422828-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422828C>A , CM000663.2:g.119422828C>A GRCh38
NC_000001.10:g.119965451C>A , CM000663.1:g.119965451C>A GRCh37
NC_000001.9:g.119766974C>A NCBI36
NG_013349.1:g.12898C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.*208C>A MANE Select ENSP00000358424.3:n.*208C>A
ENST00000369416.3:c.*208C>A ENSP00000358424.3:n.*208C>A
ENST00000543831.5:c.*208C>A ENSP00000445122.1:n.*208C>A
NM_000198.3:c.*208C>A NP_000189.1:n.*208C>A
NM_001166120.1:c.*208C>A NP_001159592.1:n.*208C>A
NM_000198.4:c.*208C>A MANE Select NP_000189.1:n.*208C>A
NM_001166120.2:c.*208C>A NP_001159592.1:n.*208C>A
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