Canonical Allele Identifier: CA374121860

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997812C>G (hg19) ; chr9:g.96235530C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235530C>G , CM000671.2:g.96235530C>G	GRCh38
NC_000009.11:g.98997812C>G , CM000671.1:g.98997812C>G	GRCh37
NC_000009.10:g.98037633C>G	NCBI36
NG_008157.1:g.71623G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.713G>C	ENSP00000364411.2:p.Ser238Thr
ENST00000375263.8:c.863G>C MANE Select	ENSP00000364412.3:p.Ser288Thr
ENST00000463517.2:n.2405G>C
ENST00000464104.6:n.1801G>C
ENST00000467499.6:c.*562G>C	ENSP00000498077.1:n.*562G>C
ENST00000494814.6:n.413G>C
ENST00000643789.1:c.3155G>C
ENST00000648146.1:c.1001G>C	ENSP00000497238.1:n.1001G>C
ENST00000648332.1:c.540G>C	ENSP00000497562.1:n.540G>C
ENST00000650005.1:c.792G>C	ENSP00000498121.1:n.792G>C
ENST00000375262.3:c.713G>C	ENSP00000364411.2:p.Ser238Thr
ENST00000375263.7:c.863G>C	ENSP00000364412.3:p.Ser288Thr
ENST00000464104.5:n.716G>C
ENST00000467499.5:n.123G>C
ENST00000494814.5:n.422G>C
NM_000197.1:c.863G>C	NP_000188.1:p.Ser288Thr
XM_005251970.3:c.503G>C	XP_005252027.1:p.Ser168Thr
XM_011518618.1:c.863G>C	XP_011516920.1:p.Ser288Thr
XM_011518619.1:c.863G>C	XP_011516921.1:p.Ser288Thr
XM_011518620.1:c.755G>C	XP_011516922.1:p.Ser252Thr
NM_000197.2:c.863G>C MANE Select	NP_000188.1:p.Ser288Thr
XM_011518618.2:c.863G>C	XP_011516920.1:p.Ser288Thr
XM_011518619.2:c.863G>C	XP_011516921.1:p.Ser288Thr
XM_017014671.1:c.863G>C	XP_016870160.1:p.Ser288Thr
XM_017014672.1:c.863G>C	XP_016870161.1:p.Ser288Thr
XM_017014673.2:c.827G>C	XP_016870162.1:p.Ser276Thr
XM_017014674.1:c.755G>C	XP_016870163.1:p.Ser252Thr
XM_017014675.1:c.701G>C	XP_016870164.1:p.Ser234Thr
XM_017014677.1:c.503G>C	XP_016870166.1:p.Ser168Thr
XM_024447529.1:c.701G>C	XP_024303297.1:p.Ser234Thr
XR_002956778.1:n.3335G>C