Canonical Allele Identifier: CA466129435
Gene: HSD17B3 HGNC NCBI

Linked Data

dbSNP Id: rs749630404
gnomAD v3: 9-96235366-G-T
gnomAD v4: 9-96235366-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96235366G>T , CM000671.2:g.96235366G>T GRCh38
NC_000009.11:g.98997648G>T , CM000671.1:g.98997648G>T GRCh37
NC_000009.10:g.98037469G>T NCBI36
NG_008157.1:g.71787C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375263.8:c.*94C>A MANE Select ENSP00000364412.3:n.*94C>A
ENST00000463517.2:n.2569C>A
ENST00000464104.6:n.1965C>A
ENST00000467499.6:c.*726C>A ENSP00000498077.1:n.*726C>A
ENST00000494814.6:n.577C>A
ENST00000643789.1:c.3319C>A
ENST00000375262.3:c.*94C>A ENSP00000364411.2:n.*94C>A
ENST00000375263.7:c.*94C>A ENSP00000364412.3:n.*94C>A
ENST00000464104.5:n.880C>A
ENST00000467499.5:n.287C>A
ENST00000494814.5:n.586C>A
NM_000197.1:c.*94C>A NP_000188.1:n.*94C>A
XM_005251970.3:c.*94C>A XP_005252027.1:n.*94C>A
XM_011518618.1:c.*94C>A XP_011516920.1:n.*94C>A
XM_011518619.1:c.*94C>A XP_011516921.1:n.*94C>A
XM_011518620.1:c.*94C>A XP_011516922.1:n.*94C>A
NM_000197.2:c.*94C>A MANE Select NP_000188.1:n.*94C>A
XM_011518618.2:c.*94C>A XP_011516920.1:n.*94C>A
XM_011518619.2:c.*94C>A XP_011516921.1:n.*94C>A
XM_017014671.1:c.*94C>A XP_016870160.1:n.*94C>A
XM_017014672.1:c.*94C>A XP_016870161.1:n.*94C>A
XM_017014673.2:c.*94C>A XP_016870162.1:n.*94C>A
XM_017014674.1:c.*94C>A XP_016870163.1:n.*94C>A
XM_017014675.1:c.*94C>A XP_016870164.1:n.*94C>A
XM_017014677.1:c.*94C>A XP_016870166.1:n.*94C>A
XM_024447529.1:c.*94C>A XP_024303297.1:n.*94C>A
XR_002956778.1:n.3499C>A