Canonical Allele Identifier: CA374121688
Gene: HSD17B3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96235500T>C , CM000671.2:g.96235500T>C GRCh38
NC_000009.11:g.98997782T>C , CM000671.1:g.98997782T>C GRCh37
NC_000009.10:g.98037603T>C NCBI36
NG_008157.1:g.71653A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375262.4:c.743A>G ENSP00000364411.2:p.His248Arg
ENST00000375263.8:c.893A>G MANE Select ENSP00000364412.3:p.His298Arg
ENST00000463517.2:n.2435A>G
ENST00000464104.6:n.1831A>G
ENST00000467499.6:c.*592A>G ENSP00000498077.1:n.*592A>G
ENST00000494814.6:n.443A>G
ENST00000643789.1:c.3185A>G
ENST00000648146.1:c.1031A>G ENSP00000497238.1:n.1031A>G
ENST00000648332.1:c.570A>G ENSP00000497562.1:n.570A>G
ENST00000650005.1:c.822A>G ENSP00000498121.1:n.822A>G
ENST00000375262.3:c.743A>G ENSP00000364411.2:p.His248Arg
ENST00000375263.7:c.893A>G ENSP00000364412.3:p.His298Arg
ENST00000464104.5:n.746A>G
ENST00000467499.5:n.153A>G
ENST00000494814.5:n.452A>G
NM_000197.1:c.893A>G NP_000188.1:p.His298Arg
XM_005251970.3:c.533A>G XP_005252027.1:p.His178Arg
XM_011518618.1:c.893A>G XP_011516920.1:p.His298Arg
XM_011518619.1:c.893A>G XP_011516921.1:p.His298Arg
XM_011518620.1:c.785A>G XP_011516922.1:p.His262Arg
NM_000197.2:c.893A>G MANE Select NP_000188.1:p.His298Arg
XM_011518618.2:c.893A>G XP_011516920.1:p.His298Arg
XM_011518619.2:c.893A>G XP_011516921.1:p.His298Arg
XM_017014671.1:c.893A>G XP_016870160.1:p.His298Arg
XM_017014672.1:c.893A>G XP_016870161.1:p.His298Arg
XM_017014673.2:c.857A>G XP_016870162.1:p.His286Arg
XM_017014674.1:c.785A>G XP_016870163.1:p.His262Arg
XM_017014675.1:c.731A>G XP_016870164.1:p.His244Arg
XM_017014677.1:c.533A>G XP_016870166.1:p.His178Arg
XM_024447529.1:c.731A>G XP_024303297.1:p.His244Arg
XR_002956778.1:n.3365A>G