Canonical Allele Identifier: CA466129598

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997790G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235508G>C , CM000671.2:g.96235508G>C	GRCh38
NC_000009.11:g.98997790G>C , CM000671.1:g.98997790G>C	GRCh37
NC_000009.10:g.98037611G>C	NCBI36
NG_008157.1:g.71645C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.735C>G	ENSP00000364411.2:p.Leu245=
ENST00000375263.8:c.885C>G MANE Select	ENSP00000364412.3:p.Leu295=
ENST00000463517.2:n.2427C>G
ENST00000464104.6:n.1823C>G
ENST00000467499.6:c.*584C>G	ENSP00000498077.1:n.*584C>G
ENST00000494814.6:n.435C>G
ENST00000643789.1:c.3177C>G
ENST00000648146.1:c.1023C>G	ENSP00000497238.1:n.1023C>G
ENST00000648332.1:c.562C>G	ENSP00000497562.1:n.562C>G
ENST00000650005.1:c.814C>G	ENSP00000498121.1:n.814C>G
ENST00000375262.3:c.735C>G	ENSP00000364411.2:p.Leu245=
ENST00000375263.7:c.885C>G	ENSP00000364412.3:p.Leu295=
ENST00000464104.5:n.738C>G
ENST00000467499.5:n.145C>G
ENST00000494814.5:n.444C>G
NM_000197.1:c.885C>G	NP_000188.1:p.Leu295=
XM_005251970.3:c.525C>G	XP_005252027.1:p.Leu175=
XM_011518618.1:c.885C>G	XP_011516920.1:p.Leu295=
XM_011518619.1:c.885C>G	XP_011516921.1:p.Leu295=
XM_011518620.1:c.777C>G	XP_011516922.1:p.Leu259=
NM_000197.2:c.885C>G MANE Select	NP_000188.1:p.Leu295=
XM_011518618.2:c.885C>G	XP_011516920.1:p.Leu295=
XM_011518619.2:c.885C>G	XP_011516921.1:p.Leu295=
XM_017014671.1:c.885C>G	XP_016870160.1:p.Leu295=
XM_017014672.1:c.885C>G	XP_016870161.1:p.Leu295=
XM_017014673.2:c.849C>G	XP_016870162.1:p.Leu283=
XM_017014674.1:c.777C>G	XP_016870163.1:p.Leu259=
XM_017014675.1:c.723C>G	XP_016870164.1:p.Leu241=
XM_017014677.1:c.525C>G	XP_016870166.1:p.Leu175=
XM_024447529.1:c.723C>G	XP_024303297.1:p.Leu241=
XR_002956778.1:n.3357C>G