Canonical Allele Identifier: CA121933

Gene: HSD3B2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119422165C>A , CM000663.2:g.119422165C>A	GRCh38
NC_000001.10:g.119964788C>A , CM000663.1:g.119964788C>A	GRCh37
NC_000001.9:g.119766311C>A	NCBI36
NG_013349.1:g.12235C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000198.4:c.664C>A MANE Select	NP_000189.1:p.Pro222Thr
ENST00000369416.4:c.664C>A MANE Select	ENSP00000358424.3:p.Pro222Thr
NM_000198.3:c.664C>A	NP_000189.1:p.Pro222Thr
NM_001166120.1:c.664C>A	NP_001159592.1:p.Pro222Thr
NM_001166120.2:c.664C>A	NP_001159592.1:p.Pro222Thr
ENST00000369416.3:c.664C>A	ENSP00000358424.3:p.Pro222Thr
ENST00000543831.5:c.664C>A	ENSP00000445122.1:p.Pro222Thr