Canonical Allele Identifier: CA2579390516

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96235408-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235408G>A , CM000671.2:g.96235408G>A	GRCh38
NC_000009.11:g.98997690G>A , CM000671.1:g.98997690G>A	GRCh37
NC_000009.10:g.98037511G>A	NCBI36
NG_008157.1:g.71745C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375263.8:c.*52C>T MANE Select	ENSP00000364412.3:n.*52C>T
ENST00000463517.2:n.2527C>T
ENST00000464104.6:n.1923C>T
ENST00000467499.6:c.*684C>T	ENSP00000498077.1:n.*684C>T
ENST00000494814.6:n.535C>T
ENST00000643789.1:c.3277C>T
ENST00000375262.3:c.*52C>T	ENSP00000364411.2:n.*52C>T
ENST00000375263.7:c.*52C>T	ENSP00000364412.3:n.*52C>T
ENST00000464104.5:n.838C>T
ENST00000467499.5:n.245C>T
ENST00000494814.5:n.544C>T
NM_000197.1:c.*52C>T	NP_000188.1:n.*52C>T
XM_005251970.3:c.*52C>T	XP_005252027.1:n.*52C>T
XM_011518618.1:c.*52C>T	XP_011516920.1:n.*52C>T
XM_011518619.1:c.*52C>T	XP_011516921.1:n.*52C>T
XM_011518620.1:c.*52C>T	XP_011516922.1:n.*52C>T
NM_000197.2:c.*52C>T MANE Select	NP_000188.1:n.*52C>T
XM_011518618.2:c.*52C>T	XP_011516920.1:n.*52C>T
XM_011518619.2:c.*52C>T	XP_011516921.1:n.*52C>T
XM_017014671.1:c.*52C>T	XP_016870160.1:n.*52C>T
XM_017014672.1:c.*52C>T	XP_016870161.1:n.*52C>T
XM_017014673.2:c.*52C>T	XP_016870162.1:n.*52C>T
XM_017014674.1:c.*52C>T	XP_016870163.1:n.*52C>T
XM_017014675.1:c.*52C>T	XP_016870164.1:n.*52C>T
XM_017014677.1:c.*52C>T	XP_016870166.1:n.*52C>T
XM_024447529.1:c.*52C>T	XP_024303297.1:n.*52C>T
XR_002956778.1:n.3457C>T