Canonical Allele Identifier: CA1036069

Gene: HSD3B2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119422461A>C , CM000663.2:g.119422461A>C	GRCh38
NC_000001.10:g.119965084A>C , CM000663.1:g.119965084A>C	GRCh37
NC_000001.9:g.119766607A>C	NCBI36
NG_013349.1:g.12531A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000198.4:c.960A>C MANE Select	NP_000189.1:p.Thr320=
ENST00000369416.4:c.960A>C MANE Select	ENSP00000358424.3:p.Thr320=
NM_000198.3:c.960A>C	NP_000189.1:p.Thr320=
NM_001166120.1:c.960A>C	NP_001159592.1:p.Thr320=
NM_001166120.2:c.960A>C	NP_001159592.1:p.Thr320=
ENST00000369416.3:c.960A>C	ENSP00000358424.3:p.Thr320=
ENST00000543831.5:c.960A>C	ENSP00000445122.1:p.Thr320=