Canonical Allele Identifier: CA374122070
Gene: HSD17B3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96235567C>G , CM000671.2:g.96235567C>G GRCh38
NC_000009.11:g.98997849C>G , CM000671.1:g.98997849C>G GRCh37
NC_000009.10:g.98037670C>G NCBI36
NG_008157.1:g.71586G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375262.4:c.676G>C ENSP00000364411.2:p.Gly226Arg
ENST00000375263.8:c.826G>C MANE Select ENSP00000364412.3:p.Gly276Arg
ENST00000463517.2:n.2368G>C
ENST00000464104.6:n.1764G>C
ENST00000467499.6:c.*525G>C ENSP00000498077.1:n.*525G>C
ENST00000494814.6:n.376G>C
ENST00000643789.1:c.3118G>C
ENST00000648146.1:c.964G>C ENSP00000497238.1:n.964G>C
ENST00000648332.1:c.503G>C ENSP00000497562.1:n.503G>C
ENST00000648799.1:c.718G>C ENSP00000498039.1:p.Gly240Arg
ENST00000650005.1:c.755G>C ENSP00000498121.1:n.755G>C
ENST00000375262.3:c.676G>C ENSP00000364411.2:p.Gly226Arg
ENST00000375263.7:c.826G>C ENSP00000364412.3:p.Gly276Arg
ENST00000464104.5:n.679G>C
ENST00000467499.5:n.86G>C
ENST00000494814.5:n.385G>C
NM_000197.1:c.826G>C NP_000188.1:p.Gly276Arg
XM_005251970.3:c.466G>C XP_005252027.1:p.Gly156Arg
XM_011518618.1:c.826G>C XP_011516920.1:p.Gly276Arg
XM_011518619.1:c.826G>C XP_011516921.1:p.Gly276Arg
XM_011518620.1:c.718G>C XP_011516922.1:p.Gly240Arg
NM_000197.2:c.826G>C MANE Select NP_000188.1:p.Gly276Arg
XM_011518618.2:c.826G>C XP_011516920.1:p.Gly276Arg
XM_011518619.2:c.826G>C XP_011516921.1:p.Gly276Arg
XM_017014671.1:c.826G>C XP_016870160.1:p.Gly276Arg
XM_017014672.1:c.826G>C XP_016870161.1:p.Gly276Arg
XM_017014673.2:c.790G>C XP_016870162.1:p.Gly264Arg
XM_017014674.1:c.718G>C XP_016870163.1:p.Gly240Arg
XM_017014675.1:c.664G>C XP_016870164.1:p.Gly222Arg
XM_017014677.1:c.466G>C XP_016870166.1:p.Gly156Arg
XM_024447529.1:c.664G>C XP_024303297.1:p.Gly222Arg
XR_002956778.1:n.3298G>C