Canonical Allele Identifier: CA196609213
Gene: HSD17B3 HGNC NCBI

Linked Data

dbSNP Id: rs2066479

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000375262.4:c.715G>C ENSP00000364411.2:p.Gly239Arg
ENST00000375263.8:c.865G>C MANE Select ENSP00000364412.3:p.Gly289Arg
ENST00000463517.2:n.2407G>C
ENST00000464104.6:n.1803G>C
ENST00000467499.6:c.*564G>C ENSP00000498077.1:n.*564G>C
ENST00000494814.6:n.415G>C
ENST00000643789.1:c.3157G>C
ENST00000648146.1:c.1003G>C ENSP00000497238.1:n.1003G>C
ENST00000648332.1:c.542G>C ENSP00000497562.1:n.542G>C
ENST00000650005.1:c.794G>C ENSP00000498121.1:n.794G>C
ENST00000375262.3:c.715G>C ENSP00000364411.2:p.Gly239Arg
ENST00000375263.7:c.865G>C ENSP00000364412.3:p.Gly289Arg
ENST00000464104.5:n.718G>C
ENST00000467499.5:n.125G>C
ENST00000494814.5:n.424G>C
NM_000197.1:c.865G>C NP_000188.1:p.Gly289Arg
XM_005251970.3:c.505G>C XP_005252027.1:p.Gly169Arg
XM_011518618.1:c.865G>C XP_011516920.1:p.Gly289Arg
XM_011518619.1:c.865G>C XP_011516921.1:p.Gly289Arg
XM_011518620.1:c.757G>C XP_011516922.1:p.Gly253Arg
NM_000197.2:c.865G>C MANE Select NP_000188.1:p.Gly289Arg
XM_011518618.2:c.865G>C XP_011516920.1:p.Gly289Arg
XM_011518619.2:c.865G>C XP_011516921.1:p.Gly289Arg
XM_017014671.1:c.865G>C XP_016870160.1:p.Gly289Arg
XM_017014672.1:c.865G>C XP_016870161.1:p.Gly289Arg
XM_017014673.2:c.829G>C XP_016870162.1:p.Gly277Arg
XM_017014674.1:c.757G>C XP_016870163.1:p.Gly253Arg
XM_017014675.1:c.703G>C XP_016870164.1:p.Gly235Arg
XM_017014677.1:c.505G>C XP_016870166.1:p.Gly169Arg
XM_024447529.1:c.703G>C XP_024303297.1:p.Gly235Arg
XR_002956778.1:n.3337G>C