Canonical Allele Identifier: CA374122059

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997848C>A (hg19) ; chr9:g.96235566C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235566C>A , CM000671.2:g.96235566C>A	GRCh38
NC_000009.11:g.98997848C>A , CM000671.1:g.98997848C>A	GRCh37
NC_000009.10:g.98037669C>A	NCBI36
NG_008157.1:g.71587G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.677G>T	ENSP00000364411.2:p.Gly226Val
ENST00000375263.8:c.827G>T MANE Select	ENSP00000364412.3:p.Gly276Val
ENST00000463517.2:n.2369G>T
ENST00000464104.6:n.1765G>T
ENST00000467499.6:c.*526G>T	ENSP00000498077.1:n.*526G>T
ENST00000494814.6:n.377G>T
ENST00000643789.1:c.3119G>T
ENST00000648146.1:c.965G>T	ENSP00000497238.1:n.965G>T
ENST00000648332.1:c.504G>T	ENSP00000497562.1:n.504G>T
ENST00000648799.1:c.719G>T	ENSP00000498039.1:p.Gly240Val
ENST00000650005.1:c.756G>T	ENSP00000498121.1:n.756G>T
ENST00000375262.3:c.677G>T	ENSP00000364411.2:p.Gly226Val
ENST00000375263.7:c.827G>T	ENSP00000364412.3:p.Gly276Val
ENST00000464104.5:n.680G>T
ENST00000467499.5:n.87G>T
ENST00000494814.5:n.386G>T
NM_000197.1:c.827G>T	NP_000188.1:p.Gly276Val
XM_005251970.3:c.467G>T	XP_005252027.1:p.Gly156Val
XM_011518618.1:c.827G>T	XP_011516920.1:p.Gly276Val
XM_011518619.1:c.827G>T	XP_011516921.1:p.Gly276Val
XM_011518620.1:c.719G>T	XP_011516922.1:p.Gly240Val
NM_000197.2:c.827G>T MANE Select	NP_000188.1:p.Gly276Val
XM_011518618.2:c.827G>T	XP_011516920.1:p.Gly276Val
XM_011518619.2:c.827G>T	XP_011516921.1:p.Gly276Val
XM_017014671.1:c.827G>T	XP_016870160.1:p.Gly276Val
XM_017014672.1:c.827G>T	XP_016870161.1:p.Gly276Val
XM_017014673.2:c.791G>T	XP_016870162.1:p.Gly264Val
XM_017014674.1:c.719G>T	XP_016870163.1:p.Gly240Val
XM_017014675.1:c.665G>T	XP_016870164.1:p.Gly222Val
XM_017014677.1:c.467G>T	XP_016870166.1:p.Gly156Val
XM_024447529.1:c.665G>T	XP_024303297.1:p.Gly222Val
XR_002956778.1:n.3299G>T