Canonical Allele Identifier: CA466132135

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.99006617G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244335G>T , CM000671.2:g.96244335G>T	GRCh38
NC_000009.11:g.99006617G>T , CM000671.1:g.99006617G>T	GRCh37
NC_000009.10:g.98046438G>T	NCBI36
NG_008157.1:g.62818C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.666C>A	ENSP00000364411.2:p.Ile222=
ENST00000375263.8:c.666C>A MANE Select	ENSP00000364412.3:p.Ile222=
ENST00000463517.2:n.2208C>A
ENST00000464104.6:n.1604C>A
ENST00000467499.6:c.*365C>A	ENSP00000498077.1:n.*365C>A
ENST00000484816.2:n.17C>A
ENST00000494814.6:n.178C>A
ENST00000643789.1:c.2958C>A
ENST00000648146.1:c.666C>A	ENSP00000497238.1:p.Ile222=
ENST00000648332.1:c.343C>A	ENSP00000497562.1:n.343C>A
ENST00000648799.1:c.558C>A	ENSP00000498039.1:p.Ile186=
ENST00000650005.1:c.595C>A	ENSP00000498121.1:n.595C>A
ENST00000375262.3:c.666C>A	ENSP00000364411.2:p.Ile222=
ENST00000375263.7:c.666C>A	ENSP00000364412.3:p.Ile222=
ENST00000464104.5:n.519C>A
ENST00000484816.1:n.16C>A
ENST00000494814.5:n.187C>A
NM_000197.1:c.666C>A	NP_000188.1:p.Ile222=
XM_005251970.3:c.306C>A	XP_005252027.1:p.Ile102=
XM_011518618.1:c.666C>A	XP_011516920.1:p.Ile222=
XM_011518619.1:c.666C>A	XP_011516921.1:p.Ile222=
XM_011518620.1:c.558C>A	XP_011516922.1:p.Ile186=
XM_011518621.1:c.666C>A	XP_011516923.1:p.Ile222=
NM_000197.2:c.666C>A MANE Select	NP_000188.1:p.Ile222=
XM_011518618.2:c.666C>A	XP_011516920.1:p.Ile222=
XM_011518619.2:c.666C>A	XP_011516921.1:p.Ile222=
XM_017014671.1:c.666C>A	XP_016870160.1:p.Ile222=
XM_017014672.1:c.666C>A	XP_016870161.1:p.Ile222=
XM_017014673.2:c.630C>A	XP_016870162.1:p.Ile210=
XM_017014674.1:c.558C>A	XP_016870163.1:p.Ile186=
XM_017014675.1:c.504C>A	XP_016870164.1:p.Ile168=
XM_017014677.1:c.306C>A	XP_016870166.1:p.Ile102=
XM_024447529.1:c.504C>A	XP_024303297.1:p.Ile168=
XR_002956778.1:n.3100C>A