Canonical Allele Identifier: CA374121784
Gene: HSD17B3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96235516T>A , CM000671.2:g.96235516T>A GRCh38
NC_000009.11:g.98997798T>A , CM000671.1:g.98997798T>A GRCh37
NC_000009.10:g.98037619T>A NCBI36
NG_008157.1:g.71637A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375262.4:c.727A>T ENSP00000364411.2:p.Arg243Trp
ENST00000375263.8:c.877A>T MANE Select ENSP00000364412.3:p.Arg293Trp
ENST00000463517.2:n.2419A>T
ENST00000464104.6:n.1815A>T
ENST00000467499.6:c.*576A>T ENSP00000498077.1:n.*576A>T
ENST00000494814.6:n.427A>T
ENST00000643789.1:c.3169A>T
ENST00000648146.1:c.1015A>T ENSP00000497238.1:n.1015A>T
ENST00000648332.1:c.554A>T ENSP00000497562.1:n.554A>T
ENST00000650005.1:c.806A>T ENSP00000498121.1:n.806A>T
ENST00000375262.3:c.727A>T ENSP00000364411.2:p.Arg243Trp
ENST00000375263.7:c.877A>T ENSP00000364412.3:p.Arg293Trp
ENST00000464104.5:n.730A>T
ENST00000467499.5:n.137A>T
ENST00000494814.5:n.436A>T
NM_000197.1:c.877A>T NP_000188.1:p.Arg293Trp
XM_005251970.3:c.517A>T XP_005252027.1:p.Arg173Trp
XM_011518618.1:c.877A>T XP_011516920.1:p.Arg293Trp
XM_011518619.1:c.877A>T XP_011516921.1:p.Arg293Trp
XM_011518620.1:c.769A>T XP_011516922.1:p.Arg257Trp
NM_000197.2:c.877A>T MANE Select NP_000188.1:p.Arg293Trp
XM_011518618.2:c.877A>T XP_011516920.1:p.Arg293Trp
XM_011518619.2:c.877A>T XP_011516921.1:p.Arg293Trp
XM_017014671.1:c.877A>T XP_016870160.1:p.Arg293Trp
XM_017014672.1:c.877A>T XP_016870161.1:p.Arg293Trp
XM_017014673.2:c.841A>T XP_016870162.1:p.Arg281Trp
XM_017014674.1:c.769A>T XP_016870163.1:p.Arg257Trp
XM_017014675.1:c.715A>T XP_016870164.1:p.Arg239Trp
XM_017014677.1:c.517A>T XP_016870166.1:p.Arg173Trp
XM_024447529.1:c.715A>T XP_024303297.1:p.Arg239Trp
XR_002956778.1:n.3349A>T