Canonical Allele Identifier: CA341396041

Gene: HSD3B2

Linked Data

• dbSNP Id: rs1651886946
• gnomAD v3: 1-119421857-T-C
• gnomAD v4: 1-119421857-T-C
• MyVariant Identifiers: chr1:g.119964480T>C (hg19) ; chr1:g.119421857T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119421857T>C , CM000663.2:g.119421857T>C	GRCh38
NC_000001.10:g.119964480T>C , CM000663.1:g.119964480T>C	GRCh37
NC_000001.9:g.119766003T>C	NCBI36
NG_013349.1:g.11927T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369416.4:c.356T>C MANE Select	ENSP00000358424.3:p.Phe119Ser
ENST00000369416.3:c.356T>C	ENSP00000358424.3:p.Phe119Ser
ENST00000433745.5:c.356T>C	ENSP00000388292.1:p.Phe119Ser
ENST00000448448.2:n.300T>C
ENST00000543831.5:c.356T>C	ENSP00000445122.1:p.Phe119Ser
NM_000198.3:c.356T>C	NP_000189.1:p.Phe119Ser
NM_001166120.1:c.356T>C	NP_001159592.1:p.Phe119Ser
NM_000198.4:c.356T>C MANE Select	NP_000189.1:p.Phe119Ser
NM_001166120.2:c.356T>C	NP_001159592.1:p.Phe119Ser