Canonical Allele Identifier: CA374122008
Gene: HSD17B3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96235552T>C , CM000671.2:g.96235552T>C GRCh38
NC_000009.11:g.98997834T>C , CM000671.1:g.98997834T>C GRCh37
NC_000009.10:g.98037655T>C NCBI36
NG_008157.1:g.71601A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000375262.4:c.691A>G ENSP00000364411.2:p.Ile231Val
ENST00000375263.8:c.841A>G MANE Select ENSP00000364412.3:p.Ile281Val
ENST00000463517.2:n.2383A>G
ENST00000464104.6:n.1779A>G
ENST00000467499.6:c.*540A>G ENSP00000498077.1:n.*540A>G
ENST00000494814.6:n.391A>G
ENST00000643789.1:c.3133A>G
ENST00000648146.1:c.979A>G ENSP00000497238.1:n.979A>G
ENST00000648332.1:c.518A>G ENSP00000497562.1:n.518A>G
ENST00000648799.1:c.733A>G ENSP00000498039.1:p.Ile245Val
ENST00000650005.1:c.770A>G ENSP00000498121.1:n.770A>G
ENST00000375262.3:c.691A>G ENSP00000364411.2:p.Ile231Val
ENST00000375263.7:c.841A>G ENSP00000364412.3:p.Ile281Val
ENST00000464104.5:n.694A>G
ENST00000467499.5:n.101A>G
ENST00000494814.5:n.400A>G
NM_000197.1:c.841A>G NP_000188.1:p.Ile281Val
XM_005251970.3:c.481A>G XP_005252027.1:p.Ile161Val
XM_011518618.1:c.841A>G XP_011516920.1:p.Ile281Val
XM_011518619.1:c.841A>G XP_011516921.1:p.Ile281Val
XM_011518620.1:c.733A>G XP_011516922.1:p.Ile245Val
NM_000197.2:c.841A>G MANE Select NP_000188.1:p.Ile281Val
XM_011518618.2:c.841A>G XP_011516920.1:p.Ile281Val
XM_011518619.2:c.841A>G XP_011516921.1:p.Ile281Val
XM_017014671.1:c.841A>G XP_016870160.1:p.Ile281Val
XM_017014672.1:c.841A>G XP_016870161.1:p.Ile281Val
XM_017014673.2:c.805A>G XP_016870162.1:p.Ile269Val
XM_017014674.1:c.733A>G XP_016870163.1:p.Ile245Val
XM_017014675.1:c.679A>G XP_016870164.1:p.Ile227Val
XM_017014677.1:c.481A>G XP_016870166.1:p.Ile161Val
XM_024447529.1:c.679A>G XP_024303297.1:p.Ile227Val
XR_002956778.1:n.3313A>G