Canonical Allele Identifier: CA2690815860

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96235446-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235446T>G , CM000671.2:g.96235446T>G	GRCh38
NC_000009.11:g.98997728T>G , CM000671.1:g.98997728T>G	GRCh37
NC_000009.10:g.98037549T>G	NCBI36
NG_008157.1:g.71707A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375263.8:c.*14A>C MANE Select	ENSP00000364412.3:n.*14A>C
ENST00000463517.2:n.2489A>C
ENST00000464104.6:n.1885A>C
ENST00000467499.6:c.*646A>C	ENSP00000498077.1:n.*646A>C
ENST00000494814.6:n.497A>C
ENST00000643789.1:c.3239A>C
ENST00000375262.3:c.*14A>C	ENSP00000364411.2:n.*14A>C
ENST00000375263.7:c.*14A>C	ENSP00000364412.3:n.*14A>C
ENST00000464104.5:n.800A>C
ENST00000467499.5:n.207A>C
ENST00000494814.5:n.506A>C
NM_000197.1:c.*14A>C	NP_000188.1:n.*14A>C
XM_005251970.3:c.*14A>C	XP_005252027.1:n.*14A>C
XM_011518618.1:c.*14A>C	XP_011516920.1:n.*14A>C
XM_011518619.1:c.*14A>C	XP_011516921.1:n.*14A>C
XM_011518620.1:c.*14A>C	XP_011516922.1:n.*14A>C
NM_000197.2:c.*14A>C MANE Select	NP_000188.1:n.*14A>C
XM_011518618.2:c.*14A>C	XP_011516920.1:n.*14A>C
XM_011518619.2:c.*14A>C	XP_011516921.1:n.*14A>C
XM_017014671.1:c.*14A>C	XP_016870160.1:n.*14A>C
XM_017014672.1:c.*14A>C	XP_016870161.1:n.*14A>C
XM_017014673.2:c.*14A>C	XP_016870162.1:n.*14A>C
XM_017014674.1:c.*14A>C	XP_016870163.1:n.*14A>C
XM_017014675.1:c.*14A>C	XP_016870164.1:n.*14A>C
XM_017014677.1:c.*14A>C	XP_016870166.1:n.*14A>C
XM_024447529.1:c.*14A>C	XP_024303297.1:n.*14A>C
XR_002956778.1:n.3419A>C