Canonical Allele Identifier: CA374121561
Gene: HSD17B3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96235474T>A , CM000671.2:g.96235474T>A GRCh38
NC_000009.11:g.98997756T>A , CM000671.1:g.98997756T>A GRCh37
NC_000009.10:g.98037577T>A NCBI36
NG_008157.1:g.71679A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375262.4:c.769A>T ENSP00000364411.2:p.Thr257Ser
ENST00000375263.8:c.919A>T MANE Select ENSP00000364412.3:p.Thr307Ser
ENST00000463517.2:n.2461A>T
ENST00000464104.6:n.1857A>T
ENST00000467499.6:c.*618A>T ENSP00000498077.1:n.*618A>T
ENST00000494814.6:n.469A>T
ENST00000643789.1:c.3211A>T
ENST00000648146.1:c.1057A>T ENSP00000497238.1:n.1057A>T
ENST00000648332.1:c.596A>T ENSP00000497562.1:n.596A>T
ENST00000650005.1:c.848A>T ENSP00000498121.1:n.848A>T
ENST00000375262.3:c.769A>T ENSP00000364411.2:p.Thr257Ser
ENST00000375263.7:c.919A>T ENSP00000364412.3:p.Thr307Ser
ENST00000464104.5:n.772A>T
ENST00000467499.5:n.179A>T
ENST00000494814.5:n.478A>T
NM_000197.1:c.919A>T NP_000188.1:p.Thr307Ser
XM_005251970.3:c.559A>T XP_005252027.1:p.Thr187Ser
XM_011518618.1:c.919A>T XP_011516920.1:p.Thr307Ser
XM_011518619.1:c.919A>T XP_011516921.1:p.Thr307Ser
XM_011518620.1:c.811A>T XP_011516922.1:p.Thr271Ser
NM_000197.2:c.919A>T MANE Select NP_000188.1:p.Thr307Ser
XM_011518618.2:c.919A>T XP_011516920.1:p.Thr307Ser
XM_011518619.2:c.919A>T XP_011516921.1:p.Thr307Ser
XM_017014671.1:c.919A>T XP_016870160.1:p.Thr307Ser
XM_017014672.1:c.919A>T XP_016870161.1:p.Thr307Ser
XM_017014673.2:c.883A>T XP_016870162.1:p.Thr295Ser
XM_017014674.1:c.811A>T XP_016870163.1:p.Thr271Ser
XM_017014675.1:c.757A>T XP_016870164.1:p.Thr253Ser
XM_017014677.1:c.559A>T XP_016870166.1:p.Thr187Ser
XM_024447529.1:c.757A>T XP_024303297.1:p.Thr253Ser
XR_002956778.1:n.3391A>T