Canonical Allele Identifier: CA374121858
Gene: HSD17B3 HGNC NCBI

Linked Data

gnomAD v4: 9-96235529-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96235529G>T , CM000671.2:g.96235529G>T GRCh38
NC_000009.11:g.98997811G>T , CM000671.1:g.98997811G>T GRCh37
NC_000009.10:g.98037632G>T NCBI36
NG_008157.1:g.71624C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375262.4:c.714C>A ENSP00000364411.2:p.Ser238Arg
ENST00000375263.8:c.864C>A MANE Select ENSP00000364412.3:p.Ser288Arg
ENST00000463517.2:n.2406C>A
ENST00000464104.6:n.1802C>A
ENST00000467499.6:c.*563C>A ENSP00000498077.1:n.*563C>A
ENST00000494814.6:n.414C>A
ENST00000643789.1:c.3156C>A
ENST00000648146.1:c.1002C>A ENSP00000497238.1:n.1002C>A
ENST00000648332.1:c.541C>A ENSP00000497562.1:n.541C>A
ENST00000650005.1:c.793C>A ENSP00000498121.1:n.793C>A
ENST00000375262.3:c.714C>A ENSP00000364411.2:p.Ser238Arg
ENST00000375263.7:c.864C>A ENSP00000364412.3:p.Ser288Arg
ENST00000464104.5:n.717C>A
ENST00000467499.5:n.124C>A
ENST00000494814.5:n.423C>A
NM_000197.1:c.864C>A NP_000188.1:p.Ser288Arg
XM_005251970.3:c.504C>A XP_005252027.1:p.Ser168Arg
XM_011518618.1:c.864C>A XP_011516920.1:p.Ser288Arg
XM_011518619.1:c.864C>A XP_011516921.1:p.Ser288Arg
XM_011518620.1:c.756C>A XP_011516922.1:p.Ser252Arg
NM_000197.2:c.864C>A MANE Select NP_000188.1:p.Ser288Arg
XM_011518618.2:c.864C>A XP_011516920.1:p.Ser288Arg
XM_011518619.2:c.864C>A XP_011516921.1:p.Ser288Arg
XM_017014671.1:c.864C>A XP_016870160.1:p.Ser288Arg
XM_017014672.1:c.864C>A XP_016870161.1:p.Ser288Arg
XM_017014673.2:c.828C>A XP_016870162.1:p.Ser276Arg
XM_017014674.1:c.756C>A XP_016870163.1:p.Ser252Arg
XM_017014675.1:c.702C>A XP_016870164.1:p.Ser234Arg
XM_017014677.1:c.504C>A XP_016870166.1:p.Ser168Arg
XM_024447529.1:c.702C>A XP_024303297.1:p.Ser234Arg
XR_002956778.1:n.3336C>A