Canonical Allele Identifier: CA374122009

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997836A>C (hg19) ; chr9:g.96235554A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235554A>C , CM000671.2:g.96235554A>C	GRCh38
NC_000009.11:g.98997836A>C , CM000671.1:g.98997836A>C	GRCh37
NC_000009.10:g.98037657A>C	NCBI36
NG_008157.1:g.71599T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.689T>G	ENSP00000364411.2:p.Leu230Arg
ENST00000375263.8:c.839T>G MANE Select	ENSP00000364412.3:p.Leu280Arg
ENST00000463517.2:n.2381T>G
ENST00000464104.6:n.1777T>G
ENST00000467499.6:c.*538T>G	ENSP00000498077.1:n.*538T>G
ENST00000494814.6:n.389T>G
ENST00000643789.1:c.3131T>G
ENST00000648146.1:c.977T>G	ENSP00000497238.1:n.977T>G
ENST00000648332.1:c.516T>G	ENSP00000497562.1:n.516T>G
ENST00000648799.1:c.731T>G	ENSP00000498039.1:p.Leu244Arg
ENST00000650005.1:c.768T>G	ENSP00000498121.1:n.768T>G
ENST00000375262.3:c.689T>G	ENSP00000364411.2:p.Leu230Arg
ENST00000375263.7:c.839T>G	ENSP00000364412.3:p.Leu280Arg
ENST00000464104.5:n.692T>G
ENST00000467499.5:n.99T>G
ENST00000494814.5:n.398T>G
NM_000197.1:c.839T>G	NP_000188.1:p.Leu280Arg
XM_005251970.3:c.479T>G	XP_005252027.1:p.Leu160Arg
XM_011518618.1:c.839T>G	XP_011516920.1:p.Leu280Arg
XM_011518619.1:c.839T>G	XP_011516921.1:p.Leu280Arg
XM_011518620.1:c.731T>G	XP_011516922.1:p.Leu244Arg
NM_000197.2:c.839T>G MANE Select	NP_000188.1:p.Leu280Arg
XM_011518618.2:c.839T>G	XP_011516920.1:p.Leu280Arg
XM_011518619.2:c.839T>G	XP_011516921.1:p.Leu280Arg
XM_017014671.1:c.839T>G	XP_016870160.1:p.Leu280Arg
XM_017014672.1:c.839T>G	XP_016870161.1:p.Leu280Arg
XM_017014673.2:c.803T>G	XP_016870162.1:p.Leu268Arg
XM_017014674.1:c.731T>G	XP_016870163.1:p.Leu244Arg
XM_017014675.1:c.677T>G	XP_016870164.1:p.Leu226Arg
XM_017014677.1:c.479T>G	XP_016870166.1:p.Leu160Arg
XM_024447529.1:c.677T>G	XP_024303297.1:p.Leu226Arg
XR_002956778.1:n.3311T>G