Canonical Allele Identifier: CA196617129
Gene: HSD17B3 HGNC NCBI

Linked Data

dbSNP Id: rs997194691
gnomAD v3: 9-96244479-A-C
gnomAD v4: 9-96244479-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96244479A>C , CM000671.2:g.96244479A>C GRCh38
NC_000009.11:g.99006761A>C , CM000671.1:g.99006761A>C GRCh37
NC_000009.10:g.98046582A>C NCBI36
NG_008157.1:g.62674T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375262.4:c.607-85T>G ENSP00000364411.2:n.607-85T>G
ENST00000375263.8:c.607-85T>G MANE Select ENSP00000364412.3:n.607-85T>G
ENST00000463517.2:n.2127-63T>G
ENST00000464104.6:n.1545-85T>G
ENST00000467499.6:c.*306-85T>G ENSP00000498077.1:n.*306-85T>G
ENST00000494814.6:n.119-85T>G
ENST00000643789.1:c.2899-85T>G
ENST00000648146.1:c.607-85T>G ENSP00000497238.1:n.607-85T>G
ENST00000648332.1:c.284-85T>G ENSP00000497562.1:n.284-85T>G
ENST00000648799.1:c.499-85T>G ENSP00000498039.1:n.499-85T>G
ENST00000650005.1:c.536-85T>G ENSP00000498121.1:n.536-85T>G
ENST00000375262.3:c.607-85T>G ENSP00000364411.2:n.607-85T>G
ENST00000375263.7:c.607-85T>G ENSP00000364412.3:n.607-85T>G
ENST00000464104.5:n.460-85T>G
ENST00000494814.5:n.128-85T>G
NM_000197.1:c.607-85T>G NP_000188.1:n.607-85T>G
XM_005251970.3:c.247-85T>G XP_005252027.1:n.247-85T>G
XM_011518618.1:c.607-85T>G XP_011516920.1:n.607-85T>G
XM_011518619.1:c.607-85T>G XP_011516921.1:n.607-85T>G
XM_011518620.1:c.499-85T>G XP_011516922.1:n.499-85T>G
XM_011518621.1:c.607-85T>G XP_011516923.1:n.607-85T>G
NM_000197.2:c.607-85T>G MANE Select NP_000188.1:n.607-85T>G
XM_011518618.2:c.607-85T>G XP_011516920.1:n.607-85T>G
XM_011518619.2:c.607-85T>G XP_011516921.1:n.607-85T>G
XM_017014671.1:c.607-85T>G XP_016870160.1:n.607-85T>G
XM_017014672.1:c.607-85T>G XP_016870161.1:n.607-85T>G
XM_017014673.2:c.571-85T>G XP_016870162.1:n.571-85T>G
XM_017014674.1:c.499-85T>G XP_016870163.1:n.499-85T>G
XM_017014675.1:c.445-85T>G XP_016870164.1:n.445-85T>G
XM_017014677.1:c.247-85T>G XP_016870166.1:n.247-85T>G
XM_024447529.1:c.445-85T>G XP_024303297.1:n.445-85T>G
XR_002956778.1:n.3041-85T>G