Canonical Allele Identifier: CA420187440
Gene: HSD3B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.119964871A>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422248A>C , CM000663.2:g.119422248A>C GRCh38
NC_000001.10:g.119964871A>C , CM000663.1:g.119964871A>C GRCh37
NC_000001.9:g.119766394A>C NCBI36
NG_013349.1:g.12318A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369416.4:c.747A>C MANE Select ENSP00000358424.3:p.Arg249=
ENST00000369416.3:c.747A>C ENSP00000358424.3:p.Arg249=
ENST00000543831.5:c.747A>C ENSP00000445122.1:p.Arg249=
NM_000198.3:c.747A>C NP_000189.1:p.Arg249=
NM_001166120.1:c.747A>C NP_001159592.1:p.Arg249=
NM_000198.4:c.747A>C MANE Select NP_000189.1:p.Arg249=
NM_001166120.2:c.747A>C NP_001159592.1:p.Arg249=
Search 100 bp 5'
Search 100 bp 3'