Canonical Allele Identifier: CA374122031

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997842A>C (hg19) ; chr9:g.96235560A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235560A>C , CM000671.2:g.96235560A>C	GRCh38
NC_000009.11:g.98997842A>C , CM000671.1:g.98997842A>C	GRCh37
NC_000009.10:g.98037663A>C	NCBI36
NG_008157.1:g.71593T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.683T>G	ENSP00000364411.2:p.Leu228Arg
ENST00000375263.8:c.833T>G MANE Select	ENSP00000364412.3:p.Leu278Arg
ENST00000463517.2:n.2375T>G
ENST00000464104.6:n.1771T>G
ENST00000467499.6:c.*532T>G	ENSP00000498077.1:n.*532T>G
ENST00000494814.6:n.383T>G
ENST00000643789.1:c.3125T>G
ENST00000648146.1:c.971T>G	ENSP00000497238.1:n.971T>G
ENST00000648332.1:c.510T>G	ENSP00000497562.1:n.510T>G
ENST00000648799.1:c.725T>G	ENSP00000498039.1:p.Leu242Arg
ENST00000650005.1:c.762T>G	ENSP00000498121.1:n.762T>G
ENST00000375262.3:c.683T>G	ENSP00000364411.2:p.Leu228Arg
ENST00000375263.7:c.833T>G	ENSP00000364412.3:p.Leu278Arg
ENST00000464104.5:n.686T>G
ENST00000467499.5:n.93T>G
ENST00000494814.5:n.392T>G
NM_000197.1:c.833T>G	NP_000188.1:p.Leu278Arg
XM_005251970.3:c.473T>G	XP_005252027.1:p.Leu158Arg
XM_011518618.1:c.833T>G	XP_011516920.1:p.Leu278Arg
XM_011518619.1:c.833T>G	XP_011516921.1:p.Leu278Arg
XM_011518620.1:c.725T>G	XP_011516922.1:p.Leu242Arg
NM_000197.2:c.833T>G MANE Select	NP_000188.1:p.Leu278Arg
XM_011518618.2:c.833T>G	XP_011516920.1:p.Leu278Arg
XM_011518619.2:c.833T>G	XP_011516921.1:p.Leu278Arg
XM_017014671.1:c.833T>G	XP_016870160.1:p.Leu278Arg
XM_017014672.1:c.833T>G	XP_016870161.1:p.Leu278Arg
XM_017014673.2:c.797T>G	XP_016870162.1:p.Leu266Arg
XM_017014674.1:c.725T>G	XP_016870163.1:p.Leu242Arg
XM_017014675.1:c.671T>G	XP_016870164.1:p.Leu224Arg
XM_017014677.1:c.473T>G	XP_016870166.1:p.Leu158Arg
XM_024447529.1:c.671T>G	XP_024303297.1:p.Leu224Arg
XR_002956778.1:n.3305T>G