Canonical Allele Identifier: CA374121840

Gene: HSD17B3

Linked Data

• dbSNP Id: rs770659849
• gnomAD v4: 9-96235524-G-A
• COSMIC: COSM6007516
• MyVariant Identifiers: chr9:g.98997806G>A (hg19) ; chr9:g.96235524G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235524G>A , CM000671.2:g.96235524G>A	GRCh38
NC_000009.11:g.98997806G>A , CM000671.1:g.98997806G>A	GRCh37
NC_000009.10:g.98037627G>A	NCBI36
NG_008157.1:g.71629C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.719C>T	ENSP00000364411.2:p.Ala240Val
ENST00000375263.8:c.869C>T MANE Select	ENSP00000364412.3:p.Ala290Val
ENST00000463517.2:n.2411C>T
ENST00000464104.6:n.1807C>T
ENST00000467499.6:c.*568C>T	ENSP00000498077.1:n.*568C>T
ENST00000494814.6:n.419C>T
ENST00000643789.1:c.3161C>T
ENST00000648146.1:c.1007C>T	ENSP00000497238.1:n.1007C>T
ENST00000648332.1:c.546C>T	ENSP00000497562.1:n.546C>T
ENST00000650005.1:c.798C>T	ENSP00000498121.1:n.798C>T
ENST00000375262.3:c.719C>T	ENSP00000364411.2:p.Ala240Val
ENST00000375263.7:c.869C>T	ENSP00000364412.3:p.Ala290Val
ENST00000464104.5:n.722C>T
ENST00000467499.5:n.129C>T
ENST00000494814.5:n.428C>T
NM_000197.1:c.869C>T	NP_000188.1:p.Ala290Val
XM_005251970.3:c.509C>T	XP_005252027.1:p.Ala170Val
XM_011518618.1:c.869C>T	XP_011516920.1:p.Ala290Val
XM_011518619.1:c.869C>T	XP_011516921.1:p.Ala290Val
XM_011518620.1:c.761C>T	XP_011516922.1:p.Ala254Val
NM_000197.2:c.869C>T MANE Select	NP_000188.1:p.Ala290Val
XM_011518618.2:c.869C>T	XP_011516920.1:p.Ala290Val
XM_011518619.2:c.869C>T	XP_011516921.1:p.Ala290Val
XM_017014671.1:c.869C>T	XP_016870160.1:p.Ala290Val
XM_017014672.1:c.869C>T	XP_016870161.1:p.Ala290Val
XM_017014673.2:c.833C>T	XP_016870162.1:p.Ala278Val
XM_017014674.1:c.761C>T	XP_016870163.1:p.Ala254Val
XM_017014675.1:c.707C>T	XP_016870164.1:p.Ala236Val
XM_017014677.1:c.509C>T	XP_016870166.1:p.Ala170Val
XM_024447529.1:c.707C>T	XP_024303297.1:p.Ala236Val
XR_002956778.1:n.3341C>T