Canonical Allele Identifier: CA5140218

Gene: HSD17B3

Linked Data

• dbSNP Id: rs751468171
• ExAC: 9:98997725 G / A
• gnomAD v2: 9-98997725-G-A
• gnomAD v4: 9-96235443-G-A
• MyVariant Identifiers: chr9:g.98997725G>A (hg19) ; chr9:g.96235443G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235443G>A , CM000671.2:g.96235443G>A	GRCh38
NC_000009.11:g.98997725G>A , CM000671.1:g.98997725G>A	GRCh37
NC_000009.10:g.98037546G>A	NCBI36
NG_008157.1:g.71710C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375263.8:c.*17C>T MANE Select	ENSP00000364412.3:n.*17C>T
ENST00000463517.2:n.2492C>T
ENST00000464104.6:n.1888C>T
ENST00000467499.6:c.*649C>T	ENSP00000498077.1:n.*649C>T
ENST00000494814.6:n.500C>T
ENST00000643789.1:c.3242C>T
ENST00000375262.3:c.*17C>T	ENSP00000364411.2:n.*17C>T
ENST00000375263.7:c.*17C>T	ENSP00000364412.3:n.*17C>T
ENST00000464104.5:n.803C>T
ENST00000467499.5:n.210C>T
ENST00000494814.5:n.509C>T
NM_000197.1:c.*17C>T	NP_000188.1:n.*17C>T
XM_005251970.3:c.*17C>T	XP_005252027.1:n.*17C>T
XM_011518618.1:c.*17C>T	XP_011516920.1:n.*17C>T
XM_011518619.1:c.*17C>T	XP_011516921.1:n.*17C>T
XM_011518620.1:c.*17C>T	XP_011516922.1:n.*17C>T
NM_000197.2:c.*17C>T MANE Select	NP_000188.1:n.*17C>T
XM_011518618.2:c.*17C>T	XP_011516920.1:n.*17C>T
XM_011518619.2:c.*17C>T	XP_011516921.1:n.*17C>T
XM_017014671.1:c.*17C>T	XP_016870160.1:n.*17C>T
XM_017014672.1:c.*17C>T	XP_016870161.1:n.*17C>T
XM_017014673.2:c.*17C>T	XP_016870162.1:n.*17C>T
XM_017014674.1:c.*17C>T	XP_016870163.1:n.*17C>T
XM_017014675.1:c.*17C>T	XP_016870164.1:n.*17C>T
XM_017014677.1:c.*17C>T	XP_016870166.1:n.*17C>T
XM_024447529.1:c.*17C>T	XP_024303297.1:n.*17C>T
XR_002956778.1:n.3422C>T