Canonical Allele Identifier: CA374123956

Gene: HSD17B3

Linked Data

• ClinVar Variation Id: 492766
• ClinVar RCV Id: RCV000583085
• dbSNP Id: rs773720185
• MyVariant Identifiers: chr9:g.99007655G>T (hg19) ; chr9:g.96245373G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96245373G>T , CM000671.2:g.96245373G>T	GRCh38
NC_000009.11:g.99007655G>T , CM000671.1:g.99007655G>T	GRCh37
NC_000009.10:g.98047476G>T	NCBI36
NG_008157.1:g.61780C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.578C>A	ENSP00000364411.2:p.Pro193His
ENST00000375263.8:c.578C>A MANE Select	ENSP00000364412.3:p.Pro193His
ENST00000463517.2:n.2098C>A
ENST00000464104.6:n.1516C>A
ENST00000467499.6:c.*277C>A	ENSP00000498077.1:n.*277C>A
ENST00000494814.6:n.90C>A
ENST00000643789.1:c.2870C>A
ENST00000648146.1:c.578C>A	ENSP00000497238.1:p.Pro193His
ENST00000648332.1:c.255C>A	ENSP00000497562.1:p.Ala85=
ENST00000648799.1:c.470C>A	ENSP00000498039.1:p.Pro157His
ENST00000650005.1:c.507C>A	ENSP00000498121.1:p.Ala169=
ENST00000375262.3:c.578C>A	ENSP00000364411.2:p.Pro193His
ENST00000375263.7:c.578C>A	ENSP00000364412.3:p.Pro193His
ENST00000464104.5:n.431C>A
ENST00000494814.5:n.99C>A
NM_000197.1:c.578C>A	NP_000188.1:p.Pro193His
XM_005251970.3:c.218C>A	XP_005252027.1:p.Pro73His
XM_011518618.1:c.578C>A	XP_011516920.1:p.Pro193His
XM_011518619.1:c.578C>A	XP_011516921.1:p.Pro193His
XM_011518620.1:c.470C>A	XP_011516922.1:p.Pro157His
XM_011518621.1:c.578C>A	XP_011516923.1:p.Pro193His
NM_000197.2:c.578C>A MANE Select	NP_000188.1:p.Pro193His
XM_011518618.2:c.578C>A	XP_011516920.1:p.Pro193His
XM_011518619.2:c.578C>A	XP_011516921.1:p.Pro193His
XM_017014671.1:c.578C>A	XP_016870160.1:p.Pro193His
XM_017014672.1:c.578C>A	XP_016870161.1:p.Pro193His
XM_017014673.2:c.542C>A	XP_016870162.1:p.Pro181His
XM_017014674.1:c.470C>A	XP_016870163.1:p.Pro157His
XM_017014675.1:c.416C>A	XP_016870164.1:p.Pro139His
XM_017014677.1:c.218C>A	XP_016870166.1:p.Pro73His
XM_024447529.1:c.416C>A	XP_024303297.1:p.Pro139His
XR_002956778.1:n.3012C>A