Canonical Allele Identifier: CA117115
Gene: HSD17B3 HGNC NCBI

Linked Data

ClinVar Variation Id: 4879
ClinVar RCV Id: RCV000005155
dbSNP Id: rs119481078
gnomAD v2: 9-99060733-C-T
gnomAD v4: 9-96298451-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96298451C>T , CM000671.2:g.96298451C>T GRCh38
NC_000009.11:g.99060733C>T , CM000671.1:g.99060733C>T GRCh37
NC_000009.10:g.98100554C>T NCBI36
NG_008157.1:g.8702G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375262.4:c.166G>A ENSP00000364411.2:p.Ala56Thr
ENST00000375263.8:c.166G>A MANE Select ENSP00000364412.3:p.Ala56Thr
ENST00000463517.2:n.975G>A
ENST00000464104.6:n.636G>A
ENST00000467499.6:c.166G>A ENSP00000498077.1:p.Ala56Thr
ENST00000643789.1:c.2458G>A
ENST00000648146.1:c.166G>A ENSP00000497238.1:p.Ala56Thr
ENST00000648332.1:c.166G>A ENSP00000497562.1:p.Ala56Thr
ENST00000648799.1:c.166G>A ENSP00000498039.1:p.Ala56Thr
ENST00000650005.1:c.166G>A ENSP00000498121.1:p.Ala56Thr
ENST00000650386.1:c.166G>A ENSP00000497464.1:p.Ala56Thr
ENST00000375262.3:c.166G>A ENSP00000364411.2:p.Ala56Thr
ENST00000375263.7:c.166G>A ENSP00000364412.3:p.Ala56Thr
NM_000197.1:c.166G>A NP_000188.1:p.Ala56Thr
XM_006717095.2:c.166G>A XP_006717158.1:p.Ala56Thr
XM_011518618.1:c.166G>A XP_011516920.1:p.Ala56Thr
XM_011518619.1:c.166G>A XP_011516921.1:p.Ala56Thr
XM_011518620.1:c.166G>A XP_011516922.1:p.Ala56Thr
XM_011518621.1:c.166G>A XP_011516923.1:p.Ala56Thr
NM_000197.2:c.166G>A MANE Select NP_000188.1:p.Ala56Thr
XM_011518618.2:c.166G>A XP_011516920.1:p.Ala56Thr
XM_011518619.2:c.166G>A XP_011516921.1:p.Ala56Thr
XM_017014671.1:c.166G>A XP_016870160.1:p.Ala56Thr
XM_017014672.1:c.166G>A XP_016870161.1:p.Ala56Thr
XM_017014673.2:c.166G>A XP_016870162.1:p.Ala56Thr
XM_017014674.1:c.166G>A XP_016870163.1:p.Ala56Thr
XM_017014675.1:c.80G>A XP_016870164.1:p.Ser27Asn
XM_017014677.1:c.-771G>A XP_016870166.1:n.-771G>A
XM_024447529.1:c.80G>A XP_024303297.1:p.Ser27Asn
XR_002956778.1:n.2600G>A