Canonical Allele Identifier: CA374123535

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.99006639T>A (hg19) ; chr9:g.96244357T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244357T>A , CM000671.2:g.96244357T>A	GRCh38
NC_000009.11:g.99006639T>A , CM000671.1:g.99006639T>A	GRCh37
NC_000009.10:g.98046460T>A	NCBI36
NG_008157.1:g.62796A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.644A>T	ENSP00000364411.2:p.Glu215Val
ENST00000375263.8:c.644A>T MANE Select	ENSP00000364412.3:p.Glu215Val
ENST00000463517.2:n.2186A>T
ENST00000464104.6:n.1582A>T
ENST00000467499.6:c.*343A>T	ENSP00000498077.1:n.*343A>T
ENST00000494814.6:n.156A>T
ENST00000643789.1:c.2936A>T
ENST00000648146.1:c.644A>T	ENSP00000497238.1:p.Glu215Val
ENST00000648332.1:c.321A>T	ENSP00000497562.1:p.Gly107=
ENST00000648799.1:c.536A>T	ENSP00000498039.1:p.Glu179Val
ENST00000650005.1:c.573A>T	ENSP00000498121.1:p.Gly191=
ENST00000375262.3:c.644A>T	ENSP00000364411.2:p.Glu215Val
ENST00000375263.7:c.644A>T	ENSP00000364412.3:p.Glu215Val
ENST00000464104.5:n.497A>T
ENST00000494814.5:n.165A>T
NM_000197.1:c.644A>T	NP_000188.1:p.Glu215Val
XM_005251970.3:c.284A>T	XP_005252027.1:p.Glu95Val
XM_011518618.1:c.644A>T	XP_011516920.1:p.Glu215Val
XM_011518619.1:c.644A>T	XP_011516921.1:p.Glu215Val
XM_011518620.1:c.536A>T	XP_011516922.1:p.Glu179Val
XM_011518621.1:c.644A>T	XP_011516923.1:p.Glu215Val
NM_000197.2:c.644A>T MANE Select	NP_000188.1:p.Glu215Val
XM_011518618.2:c.644A>T	XP_011516920.1:p.Glu215Val
XM_011518619.2:c.644A>T	XP_011516921.1:p.Glu215Val
XM_017014671.1:c.644A>T	XP_016870160.1:p.Glu215Val
XM_017014672.1:c.644A>T	XP_016870161.1:p.Glu215Val
XM_017014673.2:c.608A>T	XP_016870162.1:p.Glu203Val
XM_017014674.1:c.536A>T	XP_016870163.1:p.Glu179Val
XM_017014675.1:c.482A>T	XP_016870164.1:p.Glu161Val
XM_017014677.1:c.284A>T	XP_016870166.1:p.Glu95Val
XM_024447529.1:c.482A>T	XP_024303297.1:p.Glu161Val
XR_002956778.1:n.3078A>T