Canonical Allele Identifier: CA374121926

Gene: HSD17B3

Linked Data

• ClinVar Variation Id: 2735298
• ClinVar RCV Id: RCV003557454
• dbSNP Id: rs1334033113
• gnomAD v2: 9-98997823-C-T
• gnomAD v4: 9-96235541-C-T
• MyVariant Identifiers: chr9:g.98997823C>T (hg19) ; chr9:g.96235541C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235541C>T , CM000671.2:g.96235541C>T	GRCh38
NC_000009.11:g.98997823C>T , CM000671.1:g.98997823C>T	GRCh37
NC_000009.10:g.98037644C>T	NCBI36
NG_008157.1:g.71612G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.702G>A	ENSP00000364411.2:p.Trp234Ter
ENST00000375263.8:c.852G>A MANE Select	ENSP00000364412.3:p.Trp284Ter
ENST00000463517.2:n.2394G>A
ENST00000464104.6:n.1790G>A
ENST00000467499.6:c.*551G>A	ENSP00000498077.1:n.*551G>A
ENST00000494814.6:n.402G>A
ENST00000643789.1:c.3144G>A
ENST00000648146.1:c.990G>A	ENSP00000497238.1:n.990G>A
ENST00000648332.1:c.529G>A	ENSP00000497562.1:n.529G>A
ENST00000650005.1:c.781G>A	ENSP00000498121.1:n.781G>A
ENST00000375262.3:c.702G>A	ENSP00000364411.2:p.Trp234Ter
ENST00000375263.7:c.852G>A	ENSP00000364412.3:p.Trp284Ter
ENST00000464104.5:n.705G>A
ENST00000467499.5:n.112G>A
ENST00000494814.5:n.411G>A
NM_000197.1:c.852G>A	NP_000188.1:p.Trp284Ter
XM_005251970.3:c.492G>A	XP_005252027.1:p.Trp164Ter
XM_011518618.1:c.852G>A	XP_011516920.1:p.Trp284Ter
XM_011518619.1:c.852G>A	XP_011516921.1:p.Trp284Ter
XM_011518620.1:c.744G>A	XP_011516922.1:p.Trp248Ter
NM_000197.2:c.852G>A MANE Select	NP_000188.1:p.Trp284Ter
XM_011518618.2:c.852G>A	XP_011516920.1:p.Trp284Ter
XM_011518619.2:c.852G>A	XP_011516921.1:p.Trp284Ter
XM_017014671.1:c.852G>A	XP_016870160.1:p.Trp284Ter
XM_017014672.1:c.852G>A	XP_016870161.1:p.Trp284Ter
XM_017014673.2:c.816G>A	XP_016870162.1:p.Trp272Ter
XM_017014674.1:c.744G>A	XP_016870163.1:p.Trp248Ter
XM_017014675.1:c.690G>A	XP_016870164.1:p.Trp230Ter
XM_017014677.1:c.492G>A	XP_016870166.1:p.Trp164Ter
XM_024447529.1:c.690G>A	XP_024303297.1:p.Trp230Ter
XR_002956778.1:n.3324G>A