Canonical Allele Identifier: CA1035929

Gene: HSD3B2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119419519G>A , CM000663.2:g.119419519G>A	GRCh38
NC_000001.10:g.119962142G>A , CM000663.1:g.119962142G>A	GRCh37
NC_000001.9:g.119763665G>A	NCBI36
NG_013349.1:g.9589G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000198.4:c.244G>A MANE Select	NP_000189.1:p.Ala82Thr
ENST00000369416.4:c.244G>A MANE Select	ENSP00000358424.3:p.Ala82Thr
NM_000198.3:c.244G>A	NP_000189.1:p.Ala82Thr
NM_001166120.1:c.244G>A	NP_001159592.1:p.Ala82Thr
NM_001166120.2:c.244G>A	NP_001159592.1:p.Ala82Thr
ENST00000369416.3:c.244G>A	ENSP00000358424.3:p.Ala82Thr
ENST00000433745.5:c.244G>A	ENSP00000388292.1:p.Ala82Thr
ENST00000443865.2:n.504G>A
ENST00000448448.2:n.188G>A
ENST00000471656.5:n.385G>A
ENST00000543831.5:c.244G>A	ENSP00000445122.1:p.Ala82Thr