Canonical Allele Identifier: CA2600401736

Gene: HSD17B3

Linked Data

• dbSNP Id: rs1453838707
• gnomAD v3: 9-96235433-G-C
• gnomAD v4: 9-96235433-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235433G>C , CM000671.2:g.96235433G>C	GRCh38
NC_000009.11:g.98997715G>C , CM000671.1:g.98997715G>C	GRCh37
NC_000009.10:g.98037536G>C	NCBI36
NG_008157.1:g.71720C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375263.8:c.*27C>G MANE Select	ENSP00000364412.3:n.*27C>G
ENST00000463517.2:n.2502C>G
ENST00000464104.6:n.1898C>G
ENST00000467499.6:c.*659C>G	ENSP00000498077.1:n.*659C>G
ENST00000494814.6:n.510C>G
ENST00000643789.1:c.3252C>G
ENST00000375262.3:c.*27C>G	ENSP00000364411.2:n.*27C>G
ENST00000375263.7:c.*27C>G	ENSP00000364412.3:n.*27C>G
ENST00000464104.5:n.813C>G
ENST00000467499.5:n.220C>G
ENST00000494814.5:n.519C>G
NM_000197.1:c.*27C>G	NP_000188.1:n.*27C>G
XM_005251970.3:c.*27C>G	XP_005252027.1:n.*27C>G
XM_011518618.1:c.*27C>G	XP_011516920.1:n.*27C>G
XM_011518619.1:c.*27C>G	XP_011516921.1:n.*27C>G
XM_011518620.1:c.*27C>G	XP_011516922.1:n.*27C>G
NM_000197.2:c.*27C>G MANE Select	NP_000188.1:n.*27C>G
XM_011518618.2:c.*27C>G	XP_011516920.1:n.*27C>G
XM_011518619.2:c.*27C>G	XP_011516921.1:n.*27C>G
XM_017014671.1:c.*27C>G	XP_016870160.1:n.*27C>G
XM_017014672.1:c.*27C>G	XP_016870161.1:n.*27C>G
XM_017014673.2:c.*27C>G	XP_016870162.1:n.*27C>G
XM_017014674.1:c.*27C>G	XP_016870163.1:n.*27C>G
XM_017014675.1:c.*27C>G	XP_016870164.1:n.*27C>G
XM_017014677.1:c.*27C>G	XP_016870166.1:n.*27C>G
XM_024447529.1:c.*27C>G	XP_024303297.1:n.*27C>G
XR_002956778.1:n.3432C>G