Canonical Allele Identifier: CA2690815809
Gene: HSD17B3 HGNC NCBI

Linked Data

gnomAD v4: 9-96235355-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96235355C>T , CM000671.2:g.96235355C>T GRCh38
NC_000009.11:g.98997637C>T , CM000671.1:g.98997637C>T GRCh37
NC_000009.10:g.98037458C>T NCBI36
NG_008157.1:g.71798G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375263.8:c.*105G>A MANE Select ENSP00000364412.3:n.*105G>A
ENST00000463517.2:n.2580G>A
ENST00000464104.6:n.1976G>A
ENST00000467499.6:c.*737G>A ENSP00000498077.1:n.*737G>A
ENST00000494814.6:n.588G>A
ENST00000643789.1:c.3330G>A
ENST00000375262.3:c.*105G>A ENSP00000364411.2:n.*105G>A
ENST00000375263.7:c.*105G>A ENSP00000364412.3:n.*105G>A
ENST00000464104.5:n.891G>A
ENST00000467499.5:n.298G>A
ENST00000494814.5:n.597G>A
NM_000197.1:c.*105G>A NP_000188.1:n.*105G>A
XM_005251970.3:c.*105G>A XP_005252027.1:n.*105G>A
XM_011518618.1:c.*105G>A XP_011516920.1:n.*105G>A
XM_011518619.1:c.*105G>A XP_011516921.1:n.*105G>A
XM_011518620.1:c.*105G>A XP_011516922.1:n.*105G>A
NM_000197.2:c.*105G>A MANE Select NP_000188.1:n.*105G>A
XM_011518618.2:c.*105G>A XP_011516920.1:n.*105G>A
XM_011518619.2:c.*105G>A XP_011516921.1:n.*105G>A
XM_017014671.1:c.*105G>A XP_016870160.1:n.*105G>A
XM_017014672.1:c.*105G>A XP_016870161.1:n.*105G>A
XM_017014673.2:c.*105G>A XP_016870162.1:n.*105G>A
XM_017014674.1:c.*105G>A XP_016870163.1:n.*105G>A
XM_017014675.1:c.*105G>A XP_016870164.1:n.*105G>A
XM_017014677.1:c.*105G>A XP_016870166.1:n.*105G>A
XM_024447529.1:c.*105G>A XP_024303297.1:n.*105G>A
XR_002956778.1:n.3510G>A