Canonical Allele Identifier: CA374121614

Gene: HSD17B3

Linked Data

• dbSNP Id: rs1564018684
• gnomAD v4: 9-96235488-T-C
• MyVariant Identifiers: chr9:g.98997770T>C (hg19) ; chr9:g.96235488T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235488T>C , CM000671.2:g.96235488T>C	GRCh38
NC_000009.11:g.98997770T>C , CM000671.1:g.98997770T>C	GRCh37
NC_000009.10:g.98037591T>C	NCBI36
NG_008157.1:g.71665A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.755A>G	ENSP00000364411.2:p.Tyr252Cys
ENST00000375263.8:c.905A>G MANE Select	ENSP00000364412.3:p.Tyr302Cys
ENST00000463517.2:n.2447A>G
ENST00000464104.6:n.1843A>G
ENST00000467499.6:c.*604A>G	ENSP00000498077.1:n.*604A>G
ENST00000494814.6:n.455A>G
ENST00000643789.1:c.3197A>G
ENST00000648146.1:c.1043A>G	ENSP00000497238.1:n.1043A>G
ENST00000648332.1:c.582A>G	ENSP00000497562.1:n.582A>G
ENST00000650005.1:c.834A>G	ENSP00000498121.1:n.834A>G
ENST00000375262.3:c.755A>G	ENSP00000364411.2:p.Tyr252Cys
ENST00000375263.7:c.905A>G	ENSP00000364412.3:p.Tyr302Cys
ENST00000464104.5:n.758A>G
ENST00000467499.5:n.165A>G
ENST00000494814.5:n.464A>G
NM_000197.1:c.905A>G	NP_000188.1:p.Tyr302Cys
XM_005251970.3:c.545A>G	XP_005252027.1:p.Tyr182Cys
XM_011518618.1:c.905A>G	XP_011516920.1:p.Tyr302Cys
XM_011518619.1:c.905A>G	XP_011516921.1:p.Tyr302Cys
XM_011518620.1:c.797A>G	XP_011516922.1:p.Tyr266Cys
NM_000197.2:c.905A>G MANE Select	NP_000188.1:p.Tyr302Cys
XM_011518618.2:c.905A>G	XP_011516920.1:p.Tyr302Cys
XM_011518619.2:c.905A>G	XP_011516921.1:p.Tyr302Cys
XM_017014671.1:c.905A>G	XP_016870160.1:p.Tyr302Cys
XM_017014672.1:c.905A>G	XP_016870161.1:p.Tyr302Cys
XM_017014673.2:c.869A>G	XP_016870162.1:p.Tyr290Cys
XM_017014674.1:c.797A>G	XP_016870163.1:p.Tyr266Cys
XM_017014675.1:c.743A>G	XP_016870164.1:p.Tyr248Cys
XM_017014677.1:c.545A>G	XP_016870166.1:p.Tyr182Cys
XM_024447529.1:c.743A>G	XP_024303297.1:p.Tyr248Cys
XR_002956778.1:n.3377A>G