Canonical Allele Identifier: CA341396087
Gene: HSD3B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.119964491A>C (hg19) chr1:g.119421868A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119421868A>C , CM000663.2:g.119421868A>C GRCh38
NC_000001.10:g.119964491A>C , CM000663.1:g.119964491A>C GRCh37
NC_000001.9:g.119766014A>C NCBI36
NG_013349.1:g.11938A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.367A>C MANE Select ENSP00000358424.3:p.Ser123Arg
ENST00000369416.3:c.367A>C ENSP00000358424.3:p.Ser123Arg
ENST00000433745.5:c.367A>C ENSP00000388292.1:p.Ser123Arg
ENST00000448448.2:n.311A>C
ENST00000543831.5:c.367A>C ENSP00000445122.1:p.Ser123Arg
NM_000198.3:c.367A>C NP_000189.1:p.Ser123Arg
NM_001166120.1:c.367A>C NP_001159592.1:p.Ser123Arg
NM_000198.4:c.367A>C MANE Select NP_000189.1:p.Ser123Arg
NM_001166120.2:c.367A>C NP_001159592.1:p.Ser123Arg
Search 100 bp 5'
Search 100 bp 3'