Canonical Allele Identifier: CA212821
Gene: HSD17B3 HGNC NCBI

Linked Data

ClinVar Variation Id: 4878
dbSNP Id: rs730880305
gnomAD v3: 9-96244395-C-T
gnomAD v4: 9-96244395-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96244395C>T , CM000671.2:g.96244395C>T GRCh38
NC_000009.11:g.99006677C>T , CM000671.1:g.99006677C>T GRCh37
NC_000009.10:g.98046498C>T NCBI36
NG_008157.1:g.62758G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375262.4:c.607-1G>A ENSP00000364411.2:n.607-1G>A
ENST00000375263.8:c.607-1G>A MANE Select ENSP00000364412.3:n.607-1G>A
ENST00000463517.2:n.2148G>A
ENST00000464104.6:n.1545-1G>A
ENST00000467499.6:c.*306-1G>A ENSP00000498077.1:n.*306-1G>A
ENST00000494814.6:n.119-1G>A
ENST00000643789.1:c.2899-1G>A
ENST00000648146.1:c.607-1G>A ENSP00000497238.1:n.607-1G>A
ENST00000648332.1:c.284-1G>A ENSP00000497562.1:n.284-1G>A
ENST00000648799.1:c.499-1G>A ENSP00000498039.1:n.499-1G>A
ENST00000650005.1:c.536-1G>A ENSP00000498121.1:n.536-1G>A
ENST00000375262.3:c.607-1G>A ENSP00000364411.2:n.607-1G>A
ENST00000375263.7:c.607-1G>A ENSP00000364412.3:n.607-1G>A
ENST00000464104.5:n.460-1G>A
ENST00000494814.5:n.128-1G>A
NM_000197.1:c.607-1G>A NP_000188.1:n.607-1G>A
XM_005251970.3:c.247-1G>A XP_005252027.1:n.247-1G>A
XM_011518618.1:c.607-1G>A XP_011516920.1:n.607-1G>A
XM_011518619.1:c.607-1G>A XP_011516921.1:n.607-1G>A
XM_011518620.1:c.499-1G>A XP_011516922.1:n.499-1G>A
XM_011518621.1:c.607-1G>A XP_011516923.1:n.607-1G>A
NM_000197.2:c.607-1G>A MANE Select NP_000188.1:n.607-1G>A
XM_011518618.2:c.607-1G>A XP_011516920.1:n.607-1G>A
XM_011518619.2:c.607-1G>A XP_011516921.1:n.607-1G>A
XM_017014671.1:c.607-1G>A XP_016870160.1:n.607-1G>A
XM_017014672.1:c.607-1G>A XP_016870161.1:n.607-1G>A
XM_017014673.2:c.571-1G>A XP_016870162.1:n.571-1G>A
XM_017014674.1:c.499-1G>A XP_016870163.1:n.499-1G>A
XM_017014675.1:c.445-1G>A XP_016870164.1:n.445-1G>A
XM_017014677.1:c.247-1G>A XP_016870166.1:n.247-1G>A
XM_024447529.1:c.445-1G>A XP_024303297.1:n.445-1G>A
XR_002956778.1:n.3041-1G>A