Canonical Allele Identifier: CA374123565

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.99006644T>G (hg19) ; chr9:g.96244362T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244362T>G , CM000671.2:g.96244362T>G	GRCh38
NC_000009.11:g.99006644T>G , CM000671.1:g.99006644T>G	GRCh37
NC_000009.10:g.98046465T>G	NCBI36
NG_008157.1:g.62791A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.639A>C	ENSP00000364411.2:p.Gln213His
ENST00000375263.8:c.639A>C MANE Select	ENSP00000364412.3:p.Gln213His
ENST00000463517.2:n.2181A>C
ENST00000464104.6:n.1577A>C
ENST00000467499.6:c.*338A>C	ENSP00000498077.1:n.*338A>C
ENST00000494814.6:n.151A>C
ENST00000643789.1:c.2931A>C
ENST00000648146.1:c.639A>C	ENSP00000497238.1:p.Gln213His
ENST00000648332.1:c.316A>C	ENSP00000497562.1:p.Arg106=
ENST00000648799.1:c.531A>C	ENSP00000498039.1:p.Gln177His
ENST00000650005.1:c.568A>C	ENSP00000498121.1:p.Arg190=
ENST00000375262.3:c.639A>C	ENSP00000364411.2:p.Gln213His
ENST00000375263.7:c.639A>C	ENSP00000364412.3:p.Gln213His
ENST00000464104.5:n.492A>C
ENST00000494814.5:n.160A>C
NM_000197.1:c.639A>C	NP_000188.1:p.Gln213His
XM_005251970.3:c.279A>C	XP_005252027.1:p.Gln93His
XM_011518618.1:c.639A>C	XP_011516920.1:p.Gln213His
XM_011518619.1:c.639A>C	XP_011516921.1:p.Gln213His
XM_011518620.1:c.531A>C	XP_011516922.1:p.Gln177His
XM_011518621.1:c.639A>C	XP_011516923.1:p.Gln213His
NM_000197.2:c.639A>C MANE Select	NP_000188.1:p.Gln213His
XM_011518618.2:c.639A>C	XP_011516920.1:p.Gln213His
XM_011518619.2:c.639A>C	XP_011516921.1:p.Gln213His
XM_017014671.1:c.639A>C	XP_016870160.1:p.Gln213His
XM_017014672.1:c.639A>C	XP_016870161.1:p.Gln213His
XM_017014673.2:c.603A>C	XP_016870162.1:p.Gln201His
XM_017014674.1:c.531A>C	XP_016870163.1:p.Gln177His
XM_017014675.1:c.477A>C	XP_016870164.1:p.Gln159His
XM_017014677.1:c.279A>C	XP_016870166.1:p.Gln93His
XM_024447529.1:c.477A>C	XP_024303297.1:p.Gln159His
XR_002956778.1:n.3073A>C