Canonical Allele Identifier: CA2647378912
Gene: HSD3B2 HGNC NCBI

Linked Data

gnomAD v4: 1-119422837-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422837A>T , CM000663.2:g.119422837A>T GRCh38
NC_000001.10:g.119965460A>T , CM000663.1:g.119965460A>T GRCh37
NC_000001.9:g.119766983A>T NCBI36
NG_013349.1:g.12907A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369416.4:c.*217A>T MANE Select ENSP00000358424.3:n.*217A>T
ENST00000369416.3:c.*217A>T ENSP00000358424.3:n.*217A>T
ENST00000543831.5:c.*217A>T ENSP00000445122.1:n.*217A>T
NM_000198.3:c.*217A>T NP_000189.1:n.*217A>T
NM_001166120.1:c.*217A>T NP_001159592.1:n.*217A>T
NM_000198.4:c.*217A>T MANE Select NP_000189.1:n.*217A>T
NM_001166120.2:c.*217A>T NP_001159592.1:n.*217A>T
Search 100 bp 5'
Search 100 bp 3'