Canonical Allele Identifier: CA2580583134
Gene: HSD3B2 HGNC NCBI

Linked Data

gnomAD v4: 1-119422896-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422896C>G , CM000663.2:g.119422896C>G GRCh38
NC_000001.10:g.119965519C>G , CM000663.1:g.119965519C>G GRCh37
NC_000001.9:g.119767042C>G NCBI36
NG_013349.1:g.12966C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.*276C>G MANE Select ENSP00000358424.3:n.*276C>G
ENST00000369416.3:c.*276C>G ENSP00000358424.3:n.*276C>G
ENST00000543831.5:c.*276C>G ENSP00000445122.1:n.*276C>G
NM_000198.3:c.*276C>G NP_000189.1:n.*276C>G
NM_001166120.1:c.*276C>G NP_001159592.1:n.*276C>G
NM_000198.4:c.*276C>G MANE Select NP_000189.1:n.*276C>G
NM_001166120.2:c.*276C>G NP_001159592.1:n.*276C>G
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