Canonical Allele Identifier: CA374121658
Gene: HSD17B3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96235497T>G , CM000671.2:g.96235497T>G GRCh38
NC_000009.11:g.98997779T>G , CM000671.1:g.98997779T>G GRCh37
NC_000009.10:g.98037600T>G NCBI36
NG_008157.1:g.71656A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375262.4:c.746A>C ENSP00000364411.2:p.Tyr249Ser
ENST00000375263.8:c.896A>C MANE Select ENSP00000364412.3:p.Tyr299Ser
ENST00000463517.2:n.2438A>C
ENST00000464104.6:n.1834A>C
ENST00000467499.6:c.*595A>C ENSP00000498077.1:n.*595A>C
ENST00000494814.6:n.446A>C
ENST00000643789.1:c.3188A>C
ENST00000648146.1:c.1034A>C ENSP00000497238.1:n.1034A>C
ENST00000648332.1:c.573A>C ENSP00000497562.1:n.573A>C
ENST00000650005.1:c.825A>C ENSP00000498121.1:n.825A>C
ENST00000375262.3:c.746A>C ENSP00000364411.2:p.Tyr249Ser
ENST00000375263.7:c.896A>C ENSP00000364412.3:p.Tyr299Ser
ENST00000464104.5:n.749A>C
ENST00000467499.5:n.156A>C
ENST00000494814.5:n.455A>C
NM_000197.1:c.896A>C NP_000188.1:p.Tyr299Ser
XM_005251970.3:c.536A>C XP_005252027.1:p.Tyr179Ser
XM_011518618.1:c.896A>C XP_011516920.1:p.Tyr299Ser
XM_011518619.1:c.896A>C XP_011516921.1:p.Tyr299Ser
XM_011518620.1:c.788A>C XP_011516922.1:p.Tyr263Ser
NM_000197.2:c.896A>C MANE Select NP_000188.1:p.Tyr299Ser
XM_011518618.2:c.896A>C XP_011516920.1:p.Tyr299Ser
XM_011518619.2:c.896A>C XP_011516921.1:p.Tyr299Ser
XM_017014671.1:c.896A>C XP_016870160.1:p.Tyr299Ser
XM_017014672.1:c.896A>C XP_016870161.1:p.Tyr299Ser
XM_017014673.2:c.860A>C XP_016870162.1:p.Tyr287Ser
XM_017014674.1:c.788A>C XP_016870163.1:p.Tyr263Ser
XM_017014675.1:c.734A>C XP_016870164.1:p.Tyr245Ser
XM_017014677.1:c.536A>C XP_016870166.1:p.Tyr179Ser
XM_024447529.1:c.734A>C XP_024303297.1:p.Tyr245Ser
XR_002956778.1:n.3368A>C