Canonical Allele Identifier: CA374121615
Gene: HSD17B3 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000375262.4:c.755A>C ENSP00000364411.2:p.Tyr252Ser
ENST00000375263.8:c.905A>C MANE Select ENSP00000364412.3:p.Tyr302Ser
ENST00000463517.2:n.2447A>C
ENST00000464104.6:n.1843A>C
ENST00000467499.6:c.*604A>C ENSP00000498077.1:n.*604A>C
ENST00000494814.6:n.455A>C
ENST00000643789.1:c.3197A>C
ENST00000648146.1:c.1043A>C ENSP00000497238.1:n.1043A>C
ENST00000648332.1:c.582A>C ENSP00000497562.1:n.582A>C
ENST00000650005.1:c.834A>C ENSP00000498121.1:n.834A>C
ENST00000375262.3:c.755A>C ENSP00000364411.2:p.Tyr252Ser
ENST00000375263.7:c.905A>C ENSP00000364412.3:p.Tyr302Ser
ENST00000464104.5:n.758A>C
ENST00000467499.5:n.165A>C
ENST00000494814.5:n.464A>C
NM_000197.1:c.905A>C NP_000188.1:p.Tyr302Ser
XM_005251970.3:c.545A>C XP_005252027.1:p.Tyr182Ser
XM_011518618.1:c.905A>C XP_011516920.1:p.Tyr302Ser
XM_011518619.1:c.905A>C XP_011516921.1:p.Tyr302Ser
XM_011518620.1:c.797A>C XP_011516922.1:p.Tyr266Ser
NM_000197.2:c.905A>C MANE Select NP_000188.1:p.Tyr302Ser
XM_011518618.2:c.905A>C XP_011516920.1:p.Tyr302Ser
XM_011518619.2:c.905A>C XP_011516921.1:p.Tyr302Ser
XM_017014671.1:c.905A>C XP_016870160.1:p.Tyr302Ser
XM_017014672.1:c.905A>C XP_016870161.1:p.Tyr302Ser
XM_017014673.2:c.869A>C XP_016870162.1:p.Tyr290Ser
XM_017014674.1:c.797A>C XP_016870163.1:p.Tyr266Ser
XM_017014675.1:c.743A>C XP_016870164.1:p.Tyr248Ser
XM_017014677.1:c.545A>C XP_016870166.1:p.Tyr182Ser
XM_024447529.1:c.743A>C XP_024303297.1:p.Tyr248Ser
XR_002956778.1:n.3377A>C