Canonical Allele Identifier: CA341396913

Gene: HSD3B2

Linked Data

• MyVariant Identifiers: chr1:g.119964647A>C (hg19) ; chr1:g.119422024A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119422024A>C , CM000663.2:g.119422024A>C	GRCh38
NC_000001.10:g.119964647A>C , CM000663.1:g.119964647A>C	GRCh37
NC_000001.9:g.119766170A>C	NCBI36
NG_013349.1:g.12094A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369416.4:c.523A>C MANE Select	ENSP00000358424.3:p.Asn175His
ENST00000369416.3:c.523A>C	ENSP00000358424.3:p.Asn175His
ENST00000433745.5:c.523A>C	ENSP00000388292.1:p.Asn175His
ENST00000543831.5:c.523A>C	ENSP00000445122.1:p.Asn175His
NM_000198.3:c.523A>C	NP_000189.1:p.Asn175His
NM_001166120.1:c.523A>C	NP_001159592.1:p.Asn175His
NM_000198.4:c.523A>C MANE Select	NP_000189.1:p.Asn175His
NM_001166120.2:c.523A>C	NP_001159592.1:p.Asn175His