Canonical Allele Identifier: CA466129692

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997826G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235544G>T , CM000671.2:g.96235544G>T	GRCh38
NC_000009.11:g.98997826G>T , CM000671.1:g.98997826G>T	GRCh37
NC_000009.10:g.98037647G>T	NCBI36
NG_008157.1:g.71609C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.699C>A	ENSP00000364411.2:p.Ala233=
ENST00000375263.8:c.849C>A MANE Select	ENSP00000364412.3:p.Ala283=
ENST00000463517.2:n.2391C>A
ENST00000464104.6:n.1787C>A
ENST00000467499.6:c.*548C>A	ENSP00000498077.1:n.*548C>A
ENST00000494814.6:n.399C>A
ENST00000643789.1:c.3141C>A
ENST00000648146.1:c.987C>A	ENSP00000497238.1:n.987C>A
ENST00000648332.1:c.526C>A	ENSP00000497562.1:n.526C>A
ENST00000650005.1:c.778C>A	ENSP00000498121.1:n.778C>A
ENST00000375262.3:c.699C>A	ENSP00000364411.2:p.Ala233=
ENST00000375263.7:c.849C>A	ENSP00000364412.3:p.Ala283=
ENST00000464104.5:n.702C>A
ENST00000467499.5:n.109C>A
ENST00000494814.5:n.408C>A
NM_000197.1:c.849C>A	NP_000188.1:p.Ala283=
XM_005251970.3:c.489C>A	XP_005252027.1:p.Ala163=
XM_011518618.1:c.849C>A	XP_011516920.1:p.Ala283=
XM_011518619.1:c.849C>A	XP_011516921.1:p.Ala283=
XM_011518620.1:c.741C>A	XP_011516922.1:p.Ala247=
NM_000197.2:c.849C>A MANE Select	NP_000188.1:p.Ala283=
XM_011518618.2:c.849C>A	XP_011516920.1:p.Ala283=
XM_011518619.2:c.849C>A	XP_011516921.1:p.Ala283=
XM_017014671.1:c.849C>A	XP_016870160.1:p.Ala283=
XM_017014672.1:c.849C>A	XP_016870161.1:p.Ala283=
XM_017014673.2:c.813C>A	XP_016870162.1:p.Ala271=
XM_017014674.1:c.741C>A	XP_016870163.1:p.Ala247=
XM_017014675.1:c.687C>A	XP_016870164.1:p.Ala229=
XM_017014677.1:c.489C>A	XP_016870166.1:p.Ala163=
XM_024447529.1:c.687C>A	XP_024303297.1:p.Ala229=
XR_002956778.1:n.3321C>A