Canonical Allele Identifier: CA466129641

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997805G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235523G>C , CM000671.2:g.96235523G>C	GRCh38
NC_000009.11:g.98997805G>C , CM000671.1:g.98997805G>C	GRCh37
NC_000009.10:g.98037626G>C	NCBI36
NG_008157.1:g.71630C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.720C>G	ENSP00000364411.2:p.Ala240=
ENST00000375263.8:c.870C>G MANE Select	ENSP00000364412.3:p.Ala290=
ENST00000463517.2:n.2412C>G
ENST00000464104.6:n.1808C>G
ENST00000467499.6:c.*569C>G	ENSP00000498077.1:n.*569C>G
ENST00000494814.6:n.420C>G
ENST00000643789.1:c.3162C>G
ENST00000648146.1:c.1008C>G	ENSP00000497238.1:n.1008C>G
ENST00000648332.1:c.547C>G	ENSP00000497562.1:n.547C>G
ENST00000650005.1:c.799C>G	ENSP00000498121.1:n.799C>G
ENST00000375262.3:c.720C>G	ENSP00000364411.2:p.Ala240=
ENST00000375263.7:c.870C>G	ENSP00000364412.3:p.Ala290=
ENST00000464104.5:n.723C>G
ENST00000467499.5:n.130C>G
ENST00000494814.5:n.429C>G
NM_000197.1:c.870C>G	NP_000188.1:p.Ala290=
XM_005251970.3:c.510C>G	XP_005252027.1:p.Ala170=
XM_011518618.1:c.870C>G	XP_011516920.1:p.Ala290=
XM_011518619.1:c.870C>G	XP_011516921.1:p.Ala290=
XM_011518620.1:c.762C>G	XP_011516922.1:p.Ala254=
NM_000197.2:c.870C>G MANE Select	NP_000188.1:p.Ala290=
XM_011518618.2:c.870C>G	XP_011516920.1:p.Ala290=
XM_011518619.2:c.870C>G	XP_011516921.1:p.Ala290=
XM_017014671.1:c.870C>G	XP_016870160.1:p.Ala290=
XM_017014672.1:c.870C>G	XP_016870161.1:p.Ala290=
XM_017014673.2:c.834C>G	XP_016870162.1:p.Ala278=
XM_017014674.1:c.762C>G	XP_016870163.1:p.Ala254=
XM_017014675.1:c.708C>G	XP_016870164.1:p.Ala236=
XM_017014677.1:c.510C>G	XP_016870166.1:p.Ala170=
XM_024447529.1:c.708C>G	XP_024303297.1:p.Ala236=
XR_002956778.1:n.3342C>G