Canonical Allele Identifier: CA2690815790

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96235338-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235338T>C , CM000671.2:g.96235338T>C	GRCh38
NC_000009.11:g.98997620T>C , CM000671.1:g.98997620T>C	GRCh37
NC_000009.10:g.98037441T>C	NCBI36
NG_008157.1:g.71815A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375263.8:c.*122A>G MANE Select	ENSP00000364412.3:n.*122A>G
ENST00000463517.2:n.2597A>G
ENST00000464104.6:n.1993A>G
ENST00000467499.6:c.*754A>G	ENSP00000498077.1:n.*754A>G
ENST00000494814.6:n.605A>G
ENST00000375262.3:c.*122A>G	ENSP00000364411.2:n.*122A>G
ENST00000375263.7:c.*122A>G	ENSP00000364412.3:n.*122A>G
ENST00000464104.5:n.908A>G
ENST00000467499.5:n.315A>G
ENST00000494814.5:n.614A>G
NM_000197.1:c.*122A>G	NP_000188.1:n.*122A>G
XM_005251970.3:c.*122A>G	XP_005252027.1:n.*122A>G
XM_011518618.1:c.*122A>G	XP_011516920.1:n.*122A>G
XM_011518619.1:c.*122A>G	XP_011516921.1:n.*122A>G
XM_011518620.1:c.*122A>G	XP_011516922.1:n.*122A>G
NM_000197.2:c.*122A>G MANE Select	NP_000188.1:n.*122A>G
XM_011518618.2:c.*122A>G	XP_011516920.1:n.*122A>G
XM_011518619.2:c.*122A>G	XP_011516921.1:n.*122A>G
XM_017014671.1:c.*122A>G	XP_016870160.1:n.*122A>G
XM_017014672.1:c.*122A>G	XP_016870161.1:n.*122A>G
XM_017014673.2:c.*122A>G	XP_016870162.1:n.*122A>G
XM_017014674.1:c.*122A>G	XP_016870163.1:n.*122A>G
XM_017014675.1:c.*122A>G	XP_016870164.1:n.*122A>G
XM_017014677.1:c.*122A>G	XP_016870166.1:n.*122A>G
XM_024447529.1:c.*122A>G	XP_024303297.1:n.*122A>G
XR_002956778.1:n.3527A>G