Canonical Allele Identifier: CA374121518

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997743T>C (hg19) ; chr9:g.96235461T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235461T>C , CM000671.2:g.96235461T>C	GRCh38
NC_000009.11:g.98997743T>C , CM000671.1:g.98997743T>C	GRCh37
NC_000009.10:g.98037564T>C	NCBI36
NG_008157.1:g.71692A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.782A>G	ENSP00000364411.2:p.Ter261Trp
ENST00000375263.8:c.932A>G MANE Select	ENSP00000364412.3:p.Ter311Trp
ENST00000463517.2:n.2474A>G
ENST00000464104.6:n.1870A>G
ENST00000467499.6:c.*631A>G	ENSP00000498077.1:n.*631A>G
ENST00000494814.6:n.482A>G
ENST00000643789.1:c.3224A>G
ENST00000375262.3:c.782A>G	ENSP00000364411.2:p.Ter261Trp
ENST00000375263.7:c.932A>G	ENSP00000364412.3:p.Ter311Trp
ENST00000464104.5:n.785A>G
ENST00000467499.5:n.192A>G
ENST00000494814.5:n.491A>G
NM_000197.1:c.932A>G	NP_000188.1:p.Ter311Trp
XM_005251970.3:c.572A>G	XP_005252027.1:p.Ter191Trp
XM_011518618.1:c.932A>G	XP_011516920.1:p.Ter311Trp
XM_011518619.1:c.932A>G	XP_011516921.1:p.Ter311Trp
XM_011518620.1:c.824A>G	XP_011516922.1:p.Ter275Trp
NM_000197.2:c.932A>G MANE Select	NP_000188.1:p.Ter311Trp
XM_011518618.2:c.932A>G	XP_011516920.1:p.Ter311Trp
XM_011518619.2:c.932A>G	XP_011516921.1:p.Ter311Trp
XM_017014671.1:c.932A>G	XP_016870160.1:p.Ter311Trp
XM_017014672.1:c.932A>G	XP_016870161.1:p.Ter311Trp
XM_017014673.2:c.896A>G	XP_016870162.1:p.Ter299Trp
XM_017014674.1:c.824A>G	XP_016870163.1:p.Ter275Trp
XM_017014675.1:c.770A>G	XP_016870164.1:p.Ter257Trp
XM_017014677.1:c.572A>G	XP_016870166.1:p.Ter191Trp
XM_024447529.1:c.770A>G	XP_024303297.1:p.Ter257Trp
XR_002956778.1:n.3404A>G