Canonical Allele Identifier: CA374122082
Gene: HSD17B3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96235570C>T , CM000671.2:g.96235570C>T GRCh38
NC_000009.11:g.98997852C>T , CM000671.1:g.98997852C>T GRCh37
NC_000009.10:g.98037673C>T NCBI36
NG_008157.1:g.71583G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375262.4:c.673G>A ENSP00000364411.2:p.Ala225Thr
ENST00000375263.8:c.823G>A MANE Select ENSP00000364412.3:p.Ala275Thr
ENST00000463517.2:n.2365G>A
ENST00000464104.6:n.1761G>A
ENST00000467499.6:c.*522G>A ENSP00000498077.1:n.*522G>A
ENST00000494814.6:n.373G>A
ENST00000643789.1:c.3115G>A
ENST00000648146.1:c.961G>A ENSP00000497238.1:n.961G>A
ENST00000648332.1:c.500G>A ENSP00000497562.1:n.500G>A
ENST00000648799.1:c.715G>A ENSP00000498039.1:p.Ala239Thr
ENST00000650005.1:c.752G>A ENSP00000498121.1:n.752G>A
ENST00000375262.3:c.673G>A ENSP00000364411.2:p.Ala225Thr
ENST00000375263.7:c.823G>A ENSP00000364412.3:p.Ala275Thr
ENST00000464104.5:n.676G>A
ENST00000467499.5:n.83G>A
ENST00000494814.5:n.382G>A
NM_000197.1:c.823G>A NP_000188.1:p.Ala275Thr
XM_005251970.3:c.463G>A XP_005252027.1:p.Ala155Thr
XM_011518618.1:c.823G>A XP_011516920.1:p.Ala275Thr
XM_011518619.1:c.823G>A XP_011516921.1:p.Ala275Thr
XM_011518620.1:c.715G>A XP_011516922.1:p.Ala239Thr
NM_000197.2:c.823G>A MANE Select NP_000188.1:p.Ala275Thr
XM_011518618.2:c.823G>A XP_011516920.1:p.Ala275Thr
XM_011518619.2:c.823G>A XP_011516921.1:p.Ala275Thr
XM_017014671.1:c.823G>A XP_016870160.1:p.Ala275Thr
XM_017014672.1:c.823G>A XP_016870161.1:p.Ala275Thr
XM_017014673.2:c.787G>A XP_016870162.1:p.Ala263Thr
XM_017014674.1:c.715G>A XP_016870163.1:p.Ala239Thr
XM_017014675.1:c.661G>A XP_016870164.1:p.Ala221Thr
XM_017014677.1:c.463G>A XP_016870166.1:p.Ala155Thr
XM_024447529.1:c.661G>A XP_024303297.1:p.Ala221Thr
XR_002956778.1:n.3295G>A