Canonical Allele Identifier: CA2535383934

Gene: HSD17B3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96239812C>G , CM000671.2:g.96239812C>G	GRCh38
NC_000009.11:g.99002094C>G , CM000671.1:g.99002094C>G	GRCh37
NC_000009.10:g.98041915C>G	NCBI36
NG_008157.1:g.67341G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.673-4242G>C	ENSP00000364411.2:n.673-4242G>C
ENST00000375263.8:c.822+946G>C MANE Select	ENSP00000364412.3:n.822+946G>C
ENST00000463517.2:n.2364+946G>C
ENST00000464104.6:n.1760+946G>C
ENST00000467499.6:c.*521+946G>C	ENSP00000498077.1:n.*521+946G>C
ENST00000484816.2:n.174-141G>C
ENST00000494814.6:n.372+946G>C
ENST00000643789.1:c.3114+946G>C
ENST00000648146.1:c.960+11G>C	ENSP00000497238.1:n.960+11G>C
ENST00000648332.1:c.499+946G>C	ENSP00000497562.1:n.499+946G>C
ENST00000648799.1:c.714+946G>C	ENSP00000498039.1:n.714+946G>C
ENST00000650005.1:c.751+946G>C	ENSP00000498121.1:n.751+946G>C
ENST00000375262.3:c.673-4242G>C	ENSP00000364411.2:n.673-4242G>C
ENST00000375263.7:c.822+946G>C	ENSP00000364412.3:n.822+946G>C
ENST00000464104.5:n.675+946G>C
ENST00000467499.5:n.82+11G>C
ENST00000484816.1:n.173-141G>C
ENST00000494814.5:n.381+946G>C
NM_000197.1:c.822+946G>C	NP_000188.1:n.822+946G>C
XM_005251970.3:c.462+946G>C	XP_005252027.1:n.462+946G>C
XM_011518618.1:c.822+946G>C	XP_011516920.1:n.822+946G>C
XM_011518619.1:c.822+946G>C	XP_011516921.1:n.822+946G>C
XM_011518620.1:c.714+946G>C	XP_011516922.1:n.714+946G>C
NM_000197.2:c.822+946G>C MANE Select	NP_000188.1:n.822+946G>C
XM_011518618.2:c.822+946G>C	XP_011516920.1:n.822+946G>C
XM_011518619.2:c.822+946G>C	XP_011516921.1:n.822+946G>C
XM_017014671.1:c.822+946G>C	XP_016870160.1:n.822+946G>C
XM_017014672.1:c.822+946G>C	XP_016870161.1:n.822+946G>C
XM_017014673.2:c.786+946G>C	XP_016870162.1:n.786+946G>C
XM_017014674.1:c.714+946G>C	XP_016870163.1:n.714+946G>C
XM_017014675.1:c.660+946G>C	XP_016870164.1:n.660+946G>C
XM_017014677.1:c.462+946G>C	XP_016870166.1:n.462+946G>C
XM_024447529.1:c.660+946G>C	XP_024303297.1:n.660+946G>C
XR_002956778.1:n.3294+946G>C