Canonical Allele Identifier: CA2690817976
Gene: HSD17B3 HGNC NCBI
HSD17B3-AS1 HGNC NCBI

Linked Data

gnomAD v4: 9-96251398-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96251398A>G , CM000671.2:g.96251398A>G GRCh38
NC_000009.11:g.99013680A>G , CM000671.1:g.99013680A>G GRCh37
NC_000009.10:g.98053501A>G NCBI36
NG_008157.1:g.55755T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375262.4:c.453+20T>C (HSD17B3) ENSP00000364411.2:n.453+20T>C
ENST00000375263.8:c.453+20T>C (HSD17B3) MANE Select ENSP00000364412.3:n.453+20T>C
ENST00000463517.2:n.1262+20T>C
ENST00000464104.6:n.923+20T>C
ENST00000467499.6:c.*152+20T>C (HSD17B3) ENSP00000498077.1:n.*152+20T>C
ENST00000643789.1:c.2745+20T>C
ENST00000648146.1:c.453+20T>C (HSD17B3) ENSP00000497238.1:n.453+20T>C
ENST00000648332.1:c.202-5972T>C (HSD17B3) ENSP00000497562.1:n.202-5972T>C
ENST00000648799.1:c.345+20T>C (HSD17B3) ENSP00000498039.1:n.345+20T>C
ENST00000650005.1:c.453+20T>C (HSD17B3) ENSP00000498121.1:n.453+20T>C
ENST00000650386.1:c.453+20T>C (HSD17B3) ENSP00000497464.1:n.453+20T>C
ENST00000375262.3:c.453+20T>C (HSD17B3) ENSP00000364411.2:n.453+20T>C
ENST00000375263.7:c.453+20T>C (HSD17B3) ENSP00000364412.3:n.453+20T>C
ENST00000463517.1:n.210+20T>C (HSD17B3)
NM_000197.1:c.453+20T>C (HSD17B3) NP_000188.1:n.453+20T>C
XM_006717095.2:c.453+20T>C (HSD17B3) XP_006717158.1:n.453+20T>C
XM_011518618.1:c.453+20T>C (HSD17B3) XP_011516920.1:n.453+20T>C
XM_011518619.1:c.453+20T>C (HSD17B3) XP_011516921.1:n.453+20T>C
XM_011518620.1:c.345+20T>C (HSD17B3) XP_011516922.1:n.345+20T>C
XM_011518621.1:c.453+20T>C (HSD17B3) XP_011516923.1:n.453+20T>C
XR_930147.1:n.1288+4063A>G (HSD17B3-AS1)
XR_930148.1:n.1288+4063A>G (HSD17B3-AS1)
NM_000197.2:c.453+20T>C (HSD17B3) MANE Select NP_000188.1:n.453+20T>C
XM_011518618.2:c.453+20T>C (HSD17B3) XP_011516920.1:n.453+20T>C
XM_011518619.2:c.453+20T>C (HSD17B3) XP_011516921.1:n.453+20T>C
XM_017014671.1:c.453+20T>C (HSD17B3) XP_016870160.1:n.453+20T>C
XM_017014672.1:c.453+20T>C (HSD17B3) XP_016870161.1:n.453+20T>C
XM_017014673.2:c.453+20T>C (HSD17B3) XP_016870162.1:n.453+20T>C
XM_017014674.1:c.345+20T>C (HSD17B3) XP_016870163.1:n.345+20T>C
XM_017014675.1:c.291+20T>C (HSD17B3) XP_016870164.1:n.291+20T>C
XM_017014677.1:c.-484+20T>C (HSD17B3) XP_016870166.1:n.-484+20T>C
XM_024447529.1:c.291+20T>C (HSD17B3) XP_024303297.1:n.291+20T>C
XR_002956778.1:n.2887+20T>C (HSD17B3)