Canonical Allele Identifier: CA1865974866
Gene: HSD17B3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96235553C= , CM000671.2:g.96235553C= GRCh38
NC_000009.11:g.98997835C= , CM000671.1:g.98997835C= GRCh37
NC_000009.10:g.98037656C= NCBI36
NG_008157.1:g.71600G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375262.4:c.690G= ENSP00000364411.2:p.Leu230=
ENST00000375263.8:c.840G= MANE Select ENSP00000364412.3:p.Leu280=
ENST00000463517.2:n.2382G=
ENST00000464104.6:n.1778G=
ENST00000467499.6:c.*539G= ENSP00000498077.1:n.*539G=
ENST00000494814.6:n.390G=
ENST00000643789.1:c.3132G=
ENST00000648146.1:c.978G= ENSP00000497238.1:n.978G=
ENST00000648332.1:c.517G= ENSP00000497562.1:n.517G=
ENST00000648799.1:c.732G= ENSP00000498039.1:p.Leu244=
ENST00000650005.1:c.769G= ENSP00000498121.1:n.769G=
ENST00000375262.3:c.690G= ENSP00000364411.2:p.Leu230=
ENST00000375263.7:c.840G= ENSP00000364412.3:p.Leu280=
ENST00000464104.5:n.693G=
ENST00000467499.5:n.100G=
ENST00000494814.5:n.399G=
NM_000197.1:c.840G= NP_000188.1:p.Leu280=
XM_005251970.3:c.480G= XP_005252027.1:p.Leu160=
XM_011518618.1:c.840G= XP_011516920.1:p.Leu280=
XM_011518619.1:c.840G= XP_011516921.1:p.Leu280=
XM_011518620.1:c.732G= XP_011516922.1:p.Leu244=
NM_000197.2:c.840G= MANE Select NP_000188.1:p.Leu280=
XM_011518618.2:c.840G= XP_011516920.1:p.Leu280=
XM_011518619.2:c.840G= XP_011516921.1:p.Leu280=
XM_017014671.1:c.840G= XP_016870160.1:p.Leu280=
XM_017014672.1:c.840G= XP_016870161.1:p.Leu280=
XM_017014673.2:c.804G= XP_016870162.1:p.Leu268=
XM_017014674.1:c.732G= XP_016870163.1:p.Leu244=
XM_017014675.1:c.678G= XP_016870164.1:p.Leu226=
XM_017014677.1:c.480G= XP_016870166.1:p.Leu160=
XM_024447529.1:c.678G= XP_024303297.1:p.Leu226=
XR_002956778.1:n.3312G=