Canonical Allele Identifier: CA374123572

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.99006645T>C (hg19) ; chr9:g.96244363T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244363T>C , CM000671.2:g.96244363T>C	GRCh38
NC_000009.11:g.99006645T>C , CM000671.1:g.99006645T>C	GRCh37
NC_000009.10:g.98046466T>C	NCBI36
NG_008157.1:g.62790A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.638A>G	ENSP00000364411.2:p.Gln213Arg
ENST00000375263.8:c.638A>G MANE Select	ENSP00000364412.3:p.Gln213Arg
ENST00000463517.2:n.2180A>G
ENST00000464104.6:n.1576A>G
ENST00000467499.6:c.*337A>G	ENSP00000498077.1:n.*337A>G
ENST00000494814.6:n.150A>G
ENST00000643789.1:c.2930A>G
ENST00000648146.1:c.638A>G	ENSP00000497238.1:p.Gln213Arg
ENST00000648332.1:c.315A>G	ENSP00000497562.1:p.Ala105=
ENST00000648799.1:c.530A>G	ENSP00000498039.1:p.Gln177Arg
ENST00000650005.1:c.567A>G	ENSP00000498121.1:p.Ala189=
ENST00000375262.3:c.638A>G	ENSP00000364411.2:p.Gln213Arg
ENST00000375263.7:c.638A>G	ENSP00000364412.3:p.Gln213Arg
ENST00000464104.5:n.491A>G
ENST00000494814.5:n.159A>G
NM_000197.1:c.638A>G	NP_000188.1:p.Gln213Arg
XM_005251970.3:c.278A>G	XP_005252027.1:p.Gln93Arg
XM_011518618.1:c.638A>G	XP_011516920.1:p.Gln213Arg
XM_011518619.1:c.638A>G	XP_011516921.1:p.Gln213Arg
XM_011518620.1:c.530A>G	XP_011516922.1:p.Gln177Arg
XM_011518621.1:c.638A>G	XP_011516923.1:p.Gln213Arg
NM_000197.2:c.638A>G MANE Select	NP_000188.1:p.Gln213Arg
XM_011518618.2:c.638A>G	XP_011516920.1:p.Gln213Arg
XM_011518619.2:c.638A>G	XP_011516921.1:p.Gln213Arg
XM_017014671.1:c.638A>G	XP_016870160.1:p.Gln213Arg
XM_017014672.1:c.638A>G	XP_016870161.1:p.Gln213Arg
XM_017014673.2:c.602A>G	XP_016870162.1:p.Gln201Arg
XM_017014674.1:c.530A>G	XP_016870163.1:p.Gln177Arg
XM_017014675.1:c.476A>G	XP_016870164.1:p.Gln159Arg
XM_017014677.1:c.278A>G	XP_016870166.1:p.Gln93Arg
XM_024447529.1:c.476A>G	XP_024303297.1:p.Gln159Arg
XR_002956778.1:n.3072A>G