Canonical Allele Identifier: CA374121899

Gene: HSD17B3

Linked Data

• dbSNP Id: rs1564018781
• gnomAD v4: 9-96235537-A-T
• MyVariant Identifiers: chr9:g.98997819A>T (hg19) ; chr9:g.96235537A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235537A>T , CM000671.2:g.96235537A>T	GRCh38
NC_000009.11:g.98997819A>T , CM000671.1:g.98997819A>T	GRCh37
NC_000009.10:g.98037640A>T	NCBI36
NG_008157.1:g.71616T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.706T>A	ENSP00000364411.2:p.Phe236Ile
ENST00000375263.8:c.856T>A MANE Select	ENSP00000364412.3:p.Phe286Ile
ENST00000463517.2:n.2398T>A
ENST00000464104.6:n.1794T>A
ENST00000467499.6:c.*555T>A	ENSP00000498077.1:n.*555T>A
ENST00000494814.6:n.406T>A
ENST00000643789.1:c.3148T>A
ENST00000648146.1:c.994T>A	ENSP00000497238.1:n.994T>A
ENST00000648332.1:c.533T>A	ENSP00000497562.1:n.533T>A
ENST00000650005.1:c.785T>A	ENSP00000498121.1:n.785T>A
ENST00000375262.3:c.706T>A	ENSP00000364411.2:p.Phe236Ile
ENST00000375263.7:c.856T>A	ENSP00000364412.3:p.Phe286Ile
ENST00000464104.5:n.709T>A
ENST00000467499.5:n.116T>A
ENST00000494814.5:n.415T>A
NM_000197.1:c.856T>A	NP_000188.1:p.Phe286Ile
XM_005251970.3:c.496T>A	XP_005252027.1:p.Phe166Ile
XM_011518618.1:c.856T>A	XP_011516920.1:p.Phe286Ile
XM_011518619.1:c.856T>A	XP_011516921.1:p.Phe286Ile
XM_011518620.1:c.748T>A	XP_011516922.1:p.Phe250Ile
NM_000197.2:c.856T>A MANE Select	NP_000188.1:p.Phe286Ile
XM_011518618.2:c.856T>A	XP_011516920.1:p.Phe286Ile
XM_011518619.2:c.856T>A	XP_011516921.1:p.Phe286Ile
XM_017014671.1:c.856T>A	XP_016870160.1:p.Phe286Ile
XM_017014672.1:c.856T>A	XP_016870161.1:p.Phe286Ile
XM_017014673.2:c.820T>A	XP_016870162.1:p.Phe274Ile
XM_017014674.1:c.748T>A	XP_016870163.1:p.Phe250Ile
XM_017014675.1:c.694T>A	XP_016870164.1:p.Phe232Ile
XM_017014677.1:c.496T>A	XP_016870166.1:p.Phe166Ile
XM_024447529.1:c.694T>A	XP_024303297.1:p.Phe232Ile
XR_002956778.1:n.3328T>A