Canonical Allele Identifier: CA374121843

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997807C>G (hg19) ; chr9:g.96235525C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235525C>G , CM000671.2:g.96235525C>G	GRCh38
NC_000009.11:g.98997807C>G , CM000671.1:g.98997807C>G	GRCh37
NC_000009.10:g.98037628C>G	NCBI36
NG_008157.1:g.71628G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.718G>C	ENSP00000364411.2:p.Ala240Pro
ENST00000375263.8:c.868G>C MANE Select	ENSP00000364412.3:p.Ala290Pro
ENST00000463517.2:n.2410G>C
ENST00000464104.6:n.1806G>C
ENST00000467499.6:c.*567G>C	ENSP00000498077.1:n.*567G>C
ENST00000494814.6:n.418G>C
ENST00000643789.1:c.3160G>C
ENST00000648146.1:c.1006G>C	ENSP00000497238.1:n.1006G>C
ENST00000648332.1:c.545G>C	ENSP00000497562.1:n.545G>C
ENST00000650005.1:c.797G>C	ENSP00000498121.1:n.797G>C
ENST00000375262.3:c.718G>C	ENSP00000364411.2:p.Ala240Pro
ENST00000375263.7:c.868G>C	ENSP00000364412.3:p.Ala290Pro
ENST00000464104.5:n.721G>C
ENST00000467499.5:n.128G>C
ENST00000494814.5:n.427G>C
NM_000197.1:c.868G>C	NP_000188.1:p.Ala290Pro
XM_005251970.3:c.508G>C	XP_005252027.1:p.Ala170Pro
XM_011518618.1:c.868G>C	XP_011516920.1:p.Ala290Pro
XM_011518619.1:c.868G>C	XP_011516921.1:p.Ala290Pro
XM_011518620.1:c.760G>C	XP_011516922.1:p.Ala254Pro
NM_000197.2:c.868G>C MANE Select	NP_000188.1:p.Ala290Pro
XM_011518618.2:c.868G>C	XP_011516920.1:p.Ala290Pro
XM_011518619.2:c.868G>C	XP_011516921.1:p.Ala290Pro
XM_017014671.1:c.868G>C	XP_016870160.1:p.Ala290Pro
XM_017014672.1:c.868G>C	XP_016870161.1:p.Ala290Pro
XM_017014673.2:c.832G>C	XP_016870162.1:p.Ala278Pro
XM_017014674.1:c.760G>C	XP_016870163.1:p.Ala254Pro
XM_017014675.1:c.706G>C	XP_016870164.1:p.Ala236Pro
XM_017014677.1:c.508G>C	XP_016870166.1:p.Ala170Pro
XM_024447529.1:c.706G>C	XP_024303297.1:p.Ala236Pro
XR_002956778.1:n.3340G>C