Canonical Allele Identifier: CA341396899
Gene: HSD3B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.119964641C>A (hg19) chr1:g.119422018C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422018C>A , CM000663.2:g.119422018C>A GRCh38
NC_000001.10:g.119964641C>A , CM000663.1:g.119964641C>A GRCh37
NC_000001.9:g.119766164C>A NCBI36
NG_013349.1:g.12088C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.517C>A MANE Select ENSP00000358424.3:p.Leu173Ile
ENST00000369416.3:c.517C>A ENSP00000358424.3:p.Leu173Ile
ENST00000433745.5:c.517C>A ENSP00000388292.1:p.Leu173Ile
ENST00000448448.2:n.461C>A
ENST00000543831.5:c.517C>A ENSP00000445122.1:p.Leu173Ile
NM_000198.3:c.517C>A NP_000189.1:p.Leu173Ile
NM_001166120.1:c.517C>A NP_001159592.1:p.Leu173Ile
NM_000198.4:c.517C>A MANE Select NP_000189.1:p.Leu173Ile
NM_001166120.2:c.517C>A NP_001159592.1:p.Leu173Ile
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