Canonical Allele Identifier: CA374123555

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.99006642T>G (hg19) ; chr9:g.96244360T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244360T>G , CM000671.2:g.96244360T>G	GRCh38
NC_000009.11:g.99006642T>G , CM000671.1:g.99006642T>G	GRCh37
NC_000009.10:g.98046463T>G	NCBI36
NG_008157.1:g.62793A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.641A>C	ENSP00000364411.2:p.Glu214Ala
ENST00000375263.8:c.641A>C MANE Select	ENSP00000364412.3:p.Glu214Ala
ENST00000463517.2:n.2183A>C
ENST00000464104.6:n.1579A>C
ENST00000467499.6:c.*340A>C	ENSP00000498077.1:n.*340A>C
ENST00000494814.6:n.153A>C
ENST00000643789.1:c.2933A>C
ENST00000648146.1:c.641A>C	ENSP00000497238.1:p.Glu214Ala
ENST00000648332.1:c.318A>C	ENSP00000497562.1:p.Arg106Ser
ENST00000648799.1:c.533A>C	ENSP00000498039.1:p.Glu178Ala
ENST00000650005.1:c.570A>C	ENSP00000498121.1:p.Arg190Ser
ENST00000375262.3:c.641A>C	ENSP00000364411.2:p.Glu214Ala
ENST00000375263.7:c.641A>C	ENSP00000364412.3:p.Glu214Ala
ENST00000464104.5:n.494A>C
ENST00000494814.5:n.162A>C
NM_000197.1:c.641A>C	NP_000188.1:p.Glu214Ala
XM_005251970.3:c.281A>C	XP_005252027.1:p.Glu94Ala
XM_011518618.1:c.641A>C	XP_011516920.1:p.Glu214Ala
XM_011518619.1:c.641A>C	XP_011516921.1:p.Glu214Ala
XM_011518620.1:c.533A>C	XP_011516922.1:p.Glu178Ala
XM_011518621.1:c.641A>C	XP_011516923.1:p.Glu214Ala
NM_000197.2:c.641A>C MANE Select	NP_000188.1:p.Glu214Ala
XM_011518618.2:c.641A>C	XP_011516920.1:p.Glu214Ala
XM_011518619.2:c.641A>C	XP_011516921.1:p.Glu214Ala
XM_017014671.1:c.641A>C	XP_016870160.1:p.Glu214Ala
XM_017014672.1:c.641A>C	XP_016870161.1:p.Glu214Ala
XM_017014673.2:c.605A>C	XP_016870162.1:p.Glu202Ala
XM_017014674.1:c.533A>C	XP_016870163.1:p.Glu178Ala
XM_017014675.1:c.479A>C	XP_016870164.1:p.Glu160Ala
XM_017014677.1:c.281A>C	XP_016870166.1:p.Glu94Ala
XM_024447529.1:c.479A>C	XP_024303297.1:p.Glu160Ala
XR_002956778.1:n.3075A>C