Canonical Allele Identifier: CA2785195753

Gene: HSD17B3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235373G>A , CM000671.2:g.96235373G>A	GRCh38
NC_000009.11:g.98997655G>A , CM000671.1:g.98997655G>A	GRCh37
NC_000009.10:g.98037476G>A	NCBI36
NG_008157.1:g.71780C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375263.8:c.*87C>T MANE Select	ENSP00000364412.3:n.*87C>T
ENST00000463517.2:n.2562C>T
ENST00000464104.6:n.1958C>T
ENST00000467499.6:c.*719C>T	ENSP00000498077.1:n.*719C>T
ENST00000494814.6:n.570C>T
ENST00000643789.1:c.3312C>T
ENST00000375262.3:c.*87C>T	ENSP00000364411.2:n.*87C>T
ENST00000375263.7:c.*87C>T	ENSP00000364412.3:n.*87C>T
ENST00000464104.5:n.873C>T
ENST00000467499.5:n.280C>T
ENST00000494814.5:n.579C>T
NM_000197.1:c.*87C>T	NP_000188.1:n.*87C>T
XM_005251970.3:c.*87C>T	XP_005252027.1:n.*87C>T
XM_011518618.1:c.*87C>T	XP_011516920.1:n.*87C>T
XM_011518619.1:c.*87C>T	XP_011516921.1:n.*87C>T
XM_011518620.1:c.*87C>T	XP_011516922.1:n.*87C>T
NM_000197.2:c.*87C>T MANE Select	NP_000188.1:n.*87C>T
XM_011518618.2:c.*87C>T	XP_011516920.1:n.*87C>T
XM_011518619.2:c.*87C>T	XP_011516921.1:n.*87C>T
XM_017014671.1:c.*87C>T	XP_016870160.1:n.*87C>T
XM_017014672.1:c.*87C>T	XP_016870161.1:n.*87C>T
XM_017014673.2:c.*87C>T	XP_016870162.1:n.*87C>T
XM_017014674.1:c.*87C>T	XP_016870163.1:n.*87C>T
XM_017014675.1:c.*87C>T	XP_016870164.1:n.*87C>T
XM_017014677.1:c.*87C>T	XP_016870166.1:n.*87C>T
XM_024447529.1:c.*87C>T	XP_024303297.1:n.*87C>T
XR_002956778.1:n.3492C>T