Canonical Allele Identifier: CA1127048039

Gene: HSD17B3

Linked Data

• dbSNP Id: rs1417057846
• gnomAD v3: 9-96235447-C-T
• gnomAD v4: 9-96235447-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235447C>T , CM000671.2:g.96235447C>T	GRCh38
NC_000009.11:g.98997729C>T , CM000671.1:g.98997729C>T	GRCh37
NC_000009.10:g.98037550C>T	NCBI36
NG_008157.1:g.71706G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375263.8:c.*13G>A MANE Select	ENSP00000364412.3:n.*13G>A
ENST00000463517.2:n.2488G>A
ENST00000464104.6:n.1884G>A
ENST00000467499.6:c.*645G>A	ENSP00000498077.1:n.*645G>A
ENST00000494814.6:n.496G>A
ENST00000643789.1:c.3238G>A
ENST00000375262.3:c.*13G>A	ENSP00000364411.2:n.*13G>A
ENST00000375263.7:c.*13G>A	ENSP00000364412.3:n.*13G>A
ENST00000464104.5:n.799G>A
ENST00000467499.5:n.206G>A
ENST00000494814.5:n.505G>A
NM_000197.1:c.*13G>A	NP_000188.1:n.*13G>A
XM_005251970.3:c.*13G>A	XP_005252027.1:n.*13G>A
XM_011518618.1:c.*13G>A	XP_011516920.1:n.*13G>A
XM_011518619.1:c.*13G>A	XP_011516921.1:n.*13G>A
XM_011518620.1:c.*13G>A	XP_011516922.1:n.*13G>A
NM_000197.2:c.*13G>A MANE Select	NP_000188.1:n.*13G>A
XM_011518618.2:c.*13G>A	XP_011516920.1:n.*13G>A
XM_011518619.2:c.*13G>A	XP_011516921.1:n.*13G>A
XM_017014671.1:c.*13G>A	XP_016870160.1:n.*13G>A
XM_017014672.1:c.*13G>A	XP_016870161.1:n.*13G>A
XM_017014673.2:c.*13G>A	XP_016870162.1:n.*13G>A
XM_017014674.1:c.*13G>A	XP_016870163.1:n.*13G>A
XM_017014675.1:c.*13G>A	XP_016870164.1:n.*13G>A
XM_017014677.1:c.*13G>A	XP_016870166.1:n.*13G>A
XM_024447529.1:c.*13G>A	XP_024303297.1:n.*13G>A
XR_002956778.1:n.3418G>A