Canonical Allele Identifier: CA886229490
Gene: HSD3B2 HGNC NCBI

Linked Data

dbSNP Id: rs1291959416
gnomAD v4: 1-119422823-T-C
MyVariant Identifiers: chr1:g.119965446T>C (hg19) chr1:g.119422823T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422823T>C , CM000663.2:g.119422823T>C GRCh38
NC_000001.10:g.119965446T>C , CM000663.1:g.119965446T>C GRCh37
NC_000001.9:g.119766969T>C NCBI36
NG_013349.1:g.12893T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.*203T>C MANE Select ENSP00000358424.3:n.*203T>C
ENST00000369416.3:c.*203T>C ENSP00000358424.3:n.*203T>C
ENST00000543831.5:c.*203T>C ENSP00000445122.1:n.*203T>C
NM_000198.3:c.*203T>C NP_000189.1:n.*203T>C
NM_001166120.1:c.*203T>C NP_001159592.1:n.*203T>C
NM_000198.4:c.*203T>C MANE Select NP_000189.1:n.*203T>C
NM_001166120.2:c.*203T>C NP_001159592.1:n.*203T>C
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