Canonical Allele Identifier: CA374121696
Gene: HSD17B3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96235501G>T , CM000671.2:g.96235501G>T GRCh38
NC_000009.11:g.98997783G>T , CM000671.1:g.98997783G>T GRCh37
NC_000009.10:g.98037604G>T NCBI36
NG_008157.1:g.71652C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375262.4:c.742C>A ENSP00000364411.2:p.His248Asn
ENST00000375263.8:c.892C>A MANE Select ENSP00000364412.3:p.His298Asn
ENST00000463517.2:n.2434C>A
ENST00000464104.6:n.1830C>A
ENST00000467499.6:c.*591C>A ENSP00000498077.1:n.*591C>A
ENST00000494814.6:n.442C>A
ENST00000643789.1:c.3184C>A
ENST00000648146.1:c.1030C>A ENSP00000497238.1:n.1030C>A
ENST00000648332.1:c.569C>A ENSP00000497562.1:n.569C>A
ENST00000650005.1:c.821C>A ENSP00000498121.1:n.821C>A
ENST00000375262.3:c.742C>A ENSP00000364411.2:p.His248Asn
ENST00000375263.7:c.892C>A ENSP00000364412.3:p.His298Asn
ENST00000464104.5:n.745C>A
ENST00000467499.5:n.152C>A
ENST00000494814.5:n.451C>A
NM_000197.1:c.892C>A NP_000188.1:p.His298Asn
XM_005251970.3:c.532C>A XP_005252027.1:p.His178Asn
XM_011518618.1:c.892C>A XP_011516920.1:p.His298Asn
XM_011518619.1:c.892C>A XP_011516921.1:p.His298Asn
XM_011518620.1:c.784C>A XP_011516922.1:p.His262Asn
NM_000197.2:c.892C>A MANE Select NP_000188.1:p.His298Asn
XM_011518618.2:c.892C>A XP_011516920.1:p.His298Asn
XM_011518619.2:c.892C>A XP_011516921.1:p.His298Asn
XM_017014671.1:c.892C>A XP_016870160.1:p.His298Asn
XM_017014672.1:c.892C>A XP_016870161.1:p.His298Asn
XM_017014673.2:c.856C>A XP_016870162.1:p.His286Asn
XM_017014674.1:c.784C>A XP_016870163.1:p.His262Asn
XM_017014675.1:c.730C>A XP_016870164.1:p.His244Asn
XM_017014677.1:c.532C>A XP_016870166.1:p.His178Asn
XM_024447529.1:c.730C>A XP_024303297.1:p.His244Asn
XR_002956778.1:n.3364C>A