Canonical Allele Identifier: CA5140237
Gene: HSD17B3 HGNC NCBI
ClinVar Variation:
dbSNP:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96235528C>T , CM000671.2:g.96235528C>T GRCh38
NC_000009.11:g.98997810C>T , CM000671.1:g.98997810C>T GRCh37
NC_000009.10:g.98037631C>T NCBI36
NG_008157.1:g.71625G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375262.4:c.715G>A ENSP00000364411.2:p.Gly239Ser
ENST00000375263.8:c.865G>A MANE Select ENSP00000364412.3:p.Gly289Ser
ENST00000463517.2:n.2407G>A
ENST00000464104.6:n.1803G>A
ENST00000467499.6:c.*564G>A ENSP00000498077.1:n.*564G>A
ENST00000494814.6:n.415G>A
ENST00000643789.1:c.3157G>A
ENST00000648146.1:c.1003G>A ENSP00000497238.1:n.1003G>A
ENST00000648332.1:c.542G>A ENSP00000497562.1:n.542G>A
ENST00000650005.1:c.794G>A ENSP00000498121.1:n.794G>A
ENST00000375262.3:c.715G>A ENSP00000364411.2:p.Gly239Ser
ENST00000375263.7:c.865G>A ENSP00000364412.3:p.Gly289Ser
ENST00000464104.5:n.718G>A
ENST00000467499.5:n.125G>A
ENST00000494814.5:n.424G>A
NM_000197.1:c.865G>A NP_000188.1:p.Gly289Ser
XM_005251970.3:c.505G>A XP_005252027.1:p.Gly169Ser
XM_011518618.1:c.865G>A XP_011516920.1:p.Gly289Ser
XM_011518619.1:c.865G>A XP_011516921.1:p.Gly289Ser
XM_011518620.1:c.757G>A XP_011516922.1:p.Gly253Ser
NM_000197.2:c.865G>A MANE Select NP_000188.1:p.Gly289Ser
XM_011518618.2:c.865G>A XP_011516920.1:p.Gly289Ser
XM_011518619.2:c.865G>A XP_011516921.1:p.Gly289Ser
XM_017014671.1:c.865G>A XP_016870160.1:p.Gly289Ser
XM_017014672.1:c.865G>A XP_016870161.1:p.Gly289Ser
XM_017014673.2:c.829G>A XP_016870162.1:p.Gly277Ser
XM_017014674.1:c.757G>A XP_016870163.1:p.Gly253Ser
XM_017014675.1:c.703G>A XP_016870164.1:p.Gly235Ser
XM_017014677.1:c.505G>A XP_016870166.1:p.Gly169Ser
XM_024447529.1:c.703G>A XP_024303297.1:p.Gly235Ser
XR_002956778.1:n.3337G>A