Canonical Allele Identifier: CA374121846

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997809C>A (hg19) ; chr9:g.96235527C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235527C>A , CM000671.2:g.96235527C>A	GRCh38
NC_000009.11:g.98997809C>A , CM000671.1:g.98997809C>A	GRCh37
NC_000009.10:g.98037630C>A	NCBI36
NG_008157.1:g.71626G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.716G>T	ENSP00000364411.2:p.Gly239Val
ENST00000375263.8:c.866G>T MANE Select	ENSP00000364412.3:p.Gly289Val
ENST00000463517.2:n.2408G>T
ENST00000464104.6:n.1804G>T
ENST00000467499.6:c.*565G>T	ENSP00000498077.1:n.*565G>T
ENST00000494814.6:n.416G>T
ENST00000643789.1:c.3158G>T
ENST00000648146.1:c.1004G>T	ENSP00000497238.1:n.1004G>T
ENST00000648332.1:c.543G>T	ENSP00000497562.1:n.543G>T
ENST00000650005.1:c.795G>T	ENSP00000498121.1:n.795G>T
ENST00000375262.3:c.716G>T	ENSP00000364411.2:p.Gly239Val
ENST00000375263.7:c.866G>T	ENSP00000364412.3:p.Gly289Val
ENST00000464104.5:n.719G>T
ENST00000467499.5:n.126G>T
ENST00000494814.5:n.425G>T
NM_000197.1:c.866G>T	NP_000188.1:p.Gly289Val
XM_005251970.3:c.506G>T	XP_005252027.1:p.Gly169Val
XM_011518618.1:c.866G>T	XP_011516920.1:p.Gly289Val
XM_011518619.1:c.866G>T	XP_011516921.1:p.Gly289Val
XM_011518620.1:c.758G>T	XP_011516922.1:p.Gly253Val
NM_000197.2:c.866G>T MANE Select	NP_000188.1:p.Gly289Val
XM_011518618.2:c.866G>T	XP_011516920.1:p.Gly289Val
XM_011518619.2:c.866G>T	XP_011516921.1:p.Gly289Val
XM_017014671.1:c.866G>T	XP_016870160.1:p.Gly289Val
XM_017014672.1:c.866G>T	XP_016870161.1:p.Gly289Val
XM_017014673.2:c.830G>T	XP_016870162.1:p.Gly277Val
XM_017014674.1:c.758G>T	XP_016870163.1:p.Gly253Val
XM_017014675.1:c.704G>T	XP_016870164.1:p.Gly235Val
XM_017014677.1:c.506G>T	XP_016870166.1:p.Gly169Val
XM_024447529.1:c.704G>T	XP_024303297.1:p.Gly235Val
XR_002956778.1:n.3338G>T