Canonical Allele Identifier: CA374121619

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997771A>G (hg19) ; chr9:g.96235489A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235489A>G , CM000671.2:g.96235489A>G	GRCh38
NC_000009.11:g.98997771A>G , CM000671.1:g.98997771A>G	GRCh37
NC_000009.10:g.98037592A>G	NCBI36
NG_008157.1:g.71664T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.754T>C	ENSP00000364411.2:p.Tyr252His
ENST00000375263.8:c.904T>C MANE Select	ENSP00000364412.3:p.Tyr302His
ENST00000463517.2:n.2446T>C
ENST00000464104.6:n.1842T>C
ENST00000467499.6:c.*603T>C	ENSP00000498077.1:n.*603T>C
ENST00000494814.6:n.454T>C
ENST00000643789.1:c.3196T>C
ENST00000648146.1:c.1042T>C	ENSP00000497238.1:n.1042T>C
ENST00000648332.1:c.581T>C	ENSP00000497562.1:n.581T>C
ENST00000650005.1:c.833T>C	ENSP00000498121.1:n.833T>C
ENST00000375262.3:c.754T>C	ENSP00000364411.2:p.Tyr252His
ENST00000375263.7:c.904T>C	ENSP00000364412.3:p.Tyr302His
ENST00000464104.5:n.757T>C
ENST00000467499.5:n.164T>C
ENST00000494814.5:n.463T>C
NM_000197.1:c.904T>C	NP_000188.1:p.Tyr302His
XM_005251970.3:c.544T>C	XP_005252027.1:p.Tyr182His
XM_011518618.1:c.904T>C	XP_011516920.1:p.Tyr302His
XM_011518619.1:c.904T>C	XP_011516921.1:p.Tyr302His
XM_011518620.1:c.796T>C	XP_011516922.1:p.Tyr266His
NM_000197.2:c.904T>C MANE Select	NP_000188.1:p.Tyr302His
XM_011518618.2:c.904T>C	XP_011516920.1:p.Tyr302His
XM_011518619.2:c.904T>C	XP_011516921.1:p.Tyr302His
XM_017014671.1:c.904T>C	XP_016870160.1:p.Tyr302His
XM_017014672.1:c.904T>C	XP_016870161.1:p.Tyr302His
XM_017014673.2:c.868T>C	XP_016870162.1:p.Tyr290His
XM_017014674.1:c.796T>C	XP_016870163.1:p.Tyr266His
XM_017014675.1:c.742T>C	XP_016870164.1:p.Tyr248His
XM_017014677.1:c.544T>C	XP_016870166.1:p.Tyr182His
XM_024447529.1:c.742T>C	XP_024303297.1:p.Tyr248His
XR_002956778.1:n.3376T>C