Canonical Allele Identifier: CA374121848

Gene: HSD17B3

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.716G>C	ENSP00000364411.2:p.Gly239Ala
ENST00000375263.8:c.866G>C MANE Select	ENSP00000364412.3:p.Gly289Ala
ENST00000463517.2:n.2408G>C
ENST00000464104.6:n.1804G>C
ENST00000467499.6:c.*565G>C	ENSP00000498077.1:n.*565G>C
ENST00000494814.6:n.416G>C
ENST00000643789.1:c.3158G>C
ENST00000648146.1:c.1004G>C	ENSP00000497238.1:n.1004G>C
ENST00000648332.1:c.543G>C	ENSP00000497562.1:n.543G>C
ENST00000650005.1:c.795G>C	ENSP00000498121.1:n.795G>C
ENST00000375262.3:c.716G>C	ENSP00000364411.2:p.Gly239Ala
ENST00000375263.7:c.866G>C	ENSP00000364412.3:p.Gly289Ala
ENST00000464104.5:n.719G>C
ENST00000467499.5:n.126G>C
ENST00000494814.5:n.425G>C
NM_000197.1:c.866G>C	NP_000188.1:p.Gly289Ala
XM_005251970.3:c.506G>C	XP_005252027.1:p.Gly169Ala
XM_011518618.1:c.866G>C	XP_011516920.1:p.Gly289Ala
XM_011518619.1:c.866G>C	XP_011516921.1:p.Gly289Ala
XM_011518620.1:c.758G>C	XP_011516922.1:p.Gly253Ala
NM_000197.2:c.866G>C MANE Select	NP_000188.1:p.Gly289Ala
XM_011518618.2:c.866G>C	XP_011516920.1:p.Gly289Ala
XM_011518619.2:c.866G>C	XP_011516921.1:p.Gly289Ala
XM_017014671.1:c.866G>C	XP_016870160.1:p.Gly289Ala
XM_017014672.1:c.866G>C	XP_016870161.1:p.Gly289Ala
XM_017014673.2:c.830G>C	XP_016870162.1:p.Gly277Ala
XM_017014674.1:c.758G>C	XP_016870163.1:p.Gly253Ala
XM_017014675.1:c.704G>C	XP_016870164.1:p.Gly235Ala
XM_017014677.1:c.506G>C	XP_016870166.1:p.Gly169Ala
XM_024447529.1:c.704G>C	XP_024303297.1:p.Gly235Ala
XR_002956778.1:n.3338G>C