Canonical Allele Identifier: CA374121523

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997744A>G (hg19) ; chr9:g.96235462A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235462A>G , CM000671.2:g.96235462A>G	GRCh38
NC_000009.11:g.98997744A>G , CM000671.1:g.98997744A>G	GRCh37
NC_000009.10:g.98037565A>G	NCBI36
NG_008157.1:g.71691T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.781T>C	ENSP00000364411.2:p.Ter261Gln
ENST00000375263.8:c.931T>C MANE Select	ENSP00000364412.3:p.Ter311Gln
ENST00000463517.2:n.2473T>C
ENST00000464104.6:n.1869T>C
ENST00000467499.6:c.*630T>C	ENSP00000498077.1:n.*630T>C
ENST00000494814.6:n.481T>C
ENST00000643789.1:c.3223T>C
ENST00000375262.3:c.781T>C	ENSP00000364411.2:p.Ter261Gln
ENST00000375263.7:c.931T>C	ENSP00000364412.3:p.Ter311Gln
ENST00000464104.5:n.784T>C
ENST00000467499.5:n.191T>C
ENST00000494814.5:n.490T>C
NM_000197.1:c.931T>C	NP_000188.1:p.Ter311Gln
XM_005251970.3:c.571T>C	XP_005252027.1:p.Ter191Gln
XM_011518618.1:c.931T>C	XP_011516920.1:p.Ter311Gln
XM_011518619.1:c.931T>C	XP_011516921.1:p.Ter311Gln
XM_011518620.1:c.823T>C	XP_011516922.1:p.Ter275Gln
NM_000197.2:c.931T>C MANE Select	NP_000188.1:p.Ter311Gln
XM_011518618.2:c.931T>C	XP_011516920.1:p.Ter311Gln
XM_011518619.2:c.931T>C	XP_011516921.1:p.Ter311Gln
XM_017014671.1:c.931T>C	XP_016870160.1:p.Ter311Gln
XM_017014672.1:c.931T>C	XP_016870161.1:p.Ter311Gln
XM_017014673.2:c.895T>C	XP_016870162.1:p.Ter299Gln
XM_017014674.1:c.823T>C	XP_016870163.1:p.Ter275Gln
XM_017014675.1:c.769T>C	XP_016870164.1:p.Ter257Gln
XM_017014677.1:c.571T>C	XP_016870166.1:p.Ter191Gln
XM_024447529.1:c.769T>C	XP_024303297.1:p.Ter257Gln
XR_002956778.1:n.3403T>C