Canonical Allele Identifier: CA466136900

Gene: HSD17B3 HSD17B3-AS1

Linked Data

• ClinVar Variation Id: 3013053
• ClinVar RCV Id: RCV003870148
• gnomAD v4: 9-96254911-A-T
• MyVariant Identifiers: chr9:g.99017193A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96254911A>T , CM000671.2:g.96254911A>T	GRCh38
NC_000009.11:g.99017193A>T , CM000671.1:g.99017193A>T	GRCh37
NC_000009.10:g.98057014A>T	NCBI36
NG_008157.1:g.52242T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.234T>A (HSD17B3)	ENSP00000364411.2:p.Ile78=
ENST00000375263.8:c.234T>A (HSD17B3) MANE Select	ENSP00000364412.3:p.Ile78=
ENST00000463517.2:n.1043T>A
ENST00000464104.6:n.704T>A
ENST00000467499.6:c.202-2001T>A (HSD17B3)	ENSP00000498077.1:n.202-2001T>A
ENST00000643789.1:c.2526T>A
ENST00000648146.1:c.234T>A (HSD17B3)	ENSP00000497238.1:p.Ile78=
ENST00000648332.1:c.202-9485T>A (HSD17B3)	ENSP00000497562.1:n.202-9485T>A
ENST00000648799.1:c.234T>A (HSD17B3)	ENSP00000498039.1:p.Ile78=
ENST00000650005.1:c.234T>A (HSD17B3)	ENSP00000498121.1:p.Ile78=
ENST00000650386.1:c.234T>A (HSD17B3)	ENSP00000497464.1:p.Ile78=
ENST00000375262.3:c.234T>A (HSD17B3)	ENSP00000364411.2:p.Ile78=
ENST00000375263.7:c.234T>A (HSD17B3)	ENSP00000364412.3:p.Ile78=
NM_000197.1:c.234T>A (HSD17B3)	NP_000188.1:p.Ile78=
XM_006717095.2:c.234T>A (HSD17B3)	XP_006717158.1:p.Ile78=
XM_011518618.1:c.234T>A (HSD17B3)	XP_011516920.1:p.Ile78=
XM_011518619.1:c.234T>A (HSD17B3)	XP_011516921.1:p.Ile78=
XM_011518620.1:c.234T>A (HSD17B3)	XP_011516922.1:p.Ile78=
XM_011518621.1:c.234T>A (HSD17B3)	XP_011516923.1:p.Ile78=
XR_930147.1:n.1289-2037A>T (HSD17B3-AS1)
XR_930148.1:n.1289-2037A>T (HSD17B3-AS1)
NM_000197.2:c.234T>A (HSD17B3) MANE Select	NP_000188.1:p.Ile78=
XM_011518618.2:c.234T>A (HSD17B3)	XP_011516920.1:p.Ile78=
XM_011518619.2:c.234T>A (HSD17B3)	XP_011516921.1:p.Ile78=
XM_017014671.1:c.234T>A (HSD17B3)	XP_016870160.1:p.Ile78=
XM_017014672.1:c.234T>A (HSD17B3)	XP_016870161.1:p.Ile78=
XM_017014673.2:c.234T>A (HSD17B3)	XP_016870162.1:p.Ile78=
XM_017014674.1:c.234T>A (HSD17B3)	XP_016870163.1:p.Ile78=
XM_017014675.1:c.116-2001T>A (HSD17B3)	XP_016870164.1:n.116-2001T>A
XM_017014677.1:c.-703T>A (HSD17B3)	XP_016870166.1:n.-703T>A
XM_024447529.1:c.116-2001T>A (HSD17B3)	XP_024303297.1:n.116-2001T>A
XR_002956778.1:n.2668T>A (HSD17B3)