Canonical Allele Identifier: CA374122012

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997837G>C (hg19) ; chr9:g.96235555G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235555G>C , CM000671.2:g.96235555G>C	GRCh38
NC_000009.11:g.98997837G>C , CM000671.1:g.98997837G>C	GRCh37
NC_000009.10:g.98037658G>C	NCBI36
NG_008157.1:g.71598C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.688C>G	ENSP00000364411.2:p.Leu230Val
ENST00000375263.8:c.838C>G MANE Select	ENSP00000364412.3:p.Leu280Val
ENST00000463517.2:n.2380C>G
ENST00000464104.6:n.1776C>G
ENST00000467499.6:c.*537C>G	ENSP00000498077.1:n.*537C>G
ENST00000494814.6:n.388C>G
ENST00000643789.1:c.3130C>G
ENST00000648146.1:c.976C>G	ENSP00000497238.1:n.976C>G
ENST00000648332.1:c.515C>G	ENSP00000497562.1:n.515C>G
ENST00000648799.1:c.730C>G	ENSP00000498039.1:p.Leu244Val
ENST00000650005.1:c.767C>G	ENSP00000498121.1:n.767C>G
ENST00000375262.3:c.688C>G	ENSP00000364411.2:p.Leu230Val
ENST00000375263.7:c.838C>G	ENSP00000364412.3:p.Leu280Val
ENST00000464104.5:n.691C>G
ENST00000467499.5:n.98C>G
ENST00000494814.5:n.397C>G
NM_000197.1:c.838C>G	NP_000188.1:p.Leu280Val
XM_005251970.3:c.478C>G	XP_005252027.1:p.Leu160Val
XM_011518618.1:c.838C>G	XP_011516920.1:p.Leu280Val
XM_011518619.1:c.838C>G	XP_011516921.1:p.Leu280Val
XM_011518620.1:c.730C>G	XP_011516922.1:p.Leu244Val
NM_000197.2:c.838C>G MANE Select	NP_000188.1:p.Leu280Val
XM_011518618.2:c.838C>G	XP_011516920.1:p.Leu280Val
XM_011518619.2:c.838C>G	XP_011516921.1:p.Leu280Val
XM_017014671.1:c.838C>G	XP_016870160.1:p.Leu280Val
XM_017014672.1:c.838C>G	XP_016870161.1:p.Leu280Val
XM_017014673.2:c.802C>G	XP_016870162.1:p.Leu268Val
XM_017014674.1:c.730C>G	XP_016870163.1:p.Leu244Val
XM_017014675.1:c.676C>G	XP_016870164.1:p.Leu226Val
XM_017014677.1:c.478C>G	XP_016870166.1:p.Leu160Val
XM_024447529.1:c.676C>G	XP_024303297.1:p.Leu226Val
XR_002956778.1:n.3310C>G