Canonical Allele Identifier: CA374121753

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997792G>T (hg19) ; chr9:g.96235510G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235510G>T , CM000671.2:g.96235510G>T	GRCh38
NC_000009.11:g.98997792G>T , CM000671.1:g.98997792G>T	GRCh37
NC_000009.10:g.98037613G>T	NCBI36
NG_008157.1:g.71643C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.733C>A	ENSP00000364411.2:p.Leu245Ile
ENST00000375263.8:c.883C>A MANE Select	ENSP00000364412.3:p.Leu295Ile
ENST00000463517.2:n.2425C>A
ENST00000464104.6:n.1821C>A
ENST00000467499.6:c.*582C>A	ENSP00000498077.1:n.*582C>A
ENST00000494814.6:n.433C>A
ENST00000643789.1:c.3175C>A
ENST00000648146.1:c.1021C>A	ENSP00000497238.1:n.1021C>A
ENST00000648332.1:c.560C>A	ENSP00000497562.1:n.560C>A
ENST00000650005.1:c.812C>A	ENSP00000498121.1:n.812C>A
ENST00000375262.3:c.733C>A	ENSP00000364411.2:p.Leu245Ile
ENST00000375263.7:c.883C>A	ENSP00000364412.3:p.Leu295Ile
ENST00000464104.5:n.736C>A
ENST00000467499.5:n.143C>A
ENST00000494814.5:n.442C>A
NM_000197.1:c.883C>A	NP_000188.1:p.Leu295Ile
XM_005251970.3:c.523C>A	XP_005252027.1:p.Leu175Ile
XM_011518618.1:c.883C>A	XP_011516920.1:p.Leu295Ile
XM_011518619.1:c.883C>A	XP_011516921.1:p.Leu295Ile
XM_011518620.1:c.775C>A	XP_011516922.1:p.Leu259Ile
NM_000197.2:c.883C>A MANE Select	NP_000188.1:p.Leu295Ile
XM_011518618.2:c.883C>A	XP_011516920.1:p.Leu295Ile
XM_011518619.2:c.883C>A	XP_011516921.1:p.Leu295Ile
XM_017014671.1:c.883C>A	XP_016870160.1:p.Leu295Ile
XM_017014672.1:c.883C>A	XP_016870161.1:p.Leu295Ile
XM_017014673.2:c.847C>A	XP_016870162.1:p.Leu283Ile
XM_017014674.1:c.775C>A	XP_016870163.1:p.Leu259Ile
XM_017014675.1:c.721C>A	XP_016870164.1:p.Leu241Ile
XM_017014677.1:c.523C>A	XP_016870166.1:p.Leu175Ile
XM_024447529.1:c.721C>A	XP_024303297.1:p.Leu241Ile
XR_002956778.1:n.3355C>A