Canonical Allele Identifier: CA341396906
Gene: HSD3B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2315623
ClinVar RCV Id: RCV002888327
gnomAD v4: 1-119422022-A-C
MyVariant Identifiers: chr1:g.119964645A>C (hg19) chr1:g.119422022A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422022A>C , CM000663.2:g.119422022A>C GRCh38
NC_000001.10:g.119964645A>C , CM000663.1:g.119964645A>C GRCh37
NC_000001.9:g.119766168A>C NCBI36
NG_013349.1:g.12092A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.521A>C MANE Select ENSP00000358424.3:p.Lys174Thr
ENST00000369416.3:c.521A>C ENSP00000358424.3:p.Lys174Thr
ENST00000433745.5:c.521A>C ENSP00000388292.1:p.Lys174Thr
ENST00000448448.2:n.465A>C
ENST00000543831.5:c.521A>C ENSP00000445122.1:p.Lys174Thr
NM_000198.3:c.521A>C NP_000189.1:p.Lys174Thr
NM_001166120.1:c.521A>C NP_001159592.1:p.Lys174Thr
NM_000198.4:c.521A>C MANE Select NP_000189.1:p.Lys174Thr
NM_001166120.2:c.521A>C NP_001159592.1:p.Lys174Thr
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