Canonical Allele Identifier: CA2579390510
Gene: HSD17B3 HGNC NCBI

Linked Data

gnomAD v4: 9-96235371-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96235371A>T , CM000671.2:g.96235371A>T GRCh38
NC_000009.11:g.98997653A>T , CM000671.1:g.98997653A>T GRCh37
NC_000009.10:g.98037474A>T NCBI36
NG_008157.1:g.71782T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375263.8:c.*89T>A MANE Select ENSP00000364412.3:n.*89T>A
ENST00000463517.2:n.2564T>A
ENST00000464104.6:n.1960T>A
ENST00000467499.6:c.*721T>A ENSP00000498077.1:n.*721T>A
ENST00000494814.6:n.572T>A
ENST00000643789.1:c.3314T>A
ENST00000375262.3:c.*89T>A ENSP00000364411.2:n.*89T>A
ENST00000375263.7:c.*89T>A ENSP00000364412.3:n.*89T>A
ENST00000464104.5:n.875T>A
ENST00000467499.5:n.282T>A
ENST00000494814.5:n.581T>A
NM_000197.1:c.*89T>A NP_000188.1:n.*89T>A
XM_005251970.3:c.*89T>A XP_005252027.1:n.*89T>A
XM_011518618.1:c.*89T>A XP_011516920.1:n.*89T>A
XM_011518619.1:c.*89T>A XP_011516921.1:n.*89T>A
XM_011518620.1:c.*89T>A XP_011516922.1:n.*89T>A
NM_000197.2:c.*89T>A MANE Select NP_000188.1:n.*89T>A
XM_011518618.2:c.*89T>A XP_011516920.1:n.*89T>A
XM_011518619.2:c.*89T>A XP_011516921.1:n.*89T>A
XM_017014671.1:c.*89T>A XP_016870160.1:n.*89T>A
XM_017014672.1:c.*89T>A XP_016870161.1:n.*89T>A
XM_017014673.2:c.*89T>A XP_016870162.1:n.*89T>A
XM_017014674.1:c.*89T>A XP_016870163.1:n.*89T>A
XM_017014675.1:c.*89T>A XP_016870164.1:n.*89T>A
XM_017014677.1:c.*89T>A XP_016870166.1:n.*89T>A
XM_024447529.1:c.*89T>A XP_024303297.1:n.*89T>A
XR_002956778.1:n.3494T>A