Canonical Allele Identifier: CA2690816185
Gene: HSD17B3 HGNC NCBI

Linked Data

gnomAD v4: 9-96239838-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96239838G>T , CM000671.2:g.96239838G>T GRCh38
NC_000009.11:g.99002120G>T , CM000671.1:g.99002120G>T GRCh37
NC_000009.10:g.98041941G>T NCBI36
NG_008157.1:g.67315C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375262.4:c.673-4268C>A ENSP00000364411.2:n.673-4268C>A
ENST00000375263.8:c.822+920C>A MANE Select ENSP00000364412.3:n.822+920C>A
ENST00000463517.2:n.2364+920C>A
ENST00000464104.6:n.1760+920C>A
ENST00000467499.6:c.*521+920C>A ENSP00000498077.1:n.*521+920C>A
ENST00000484816.2:n.174-167C>A
ENST00000494814.6:n.372+920C>A
ENST00000643789.1:c.3114+920C>A
ENST00000648146.1:c.945C>A ENSP00000497238.1:n.945C>A
ENST00000648332.1:c.499+920C>A ENSP00000497562.1:n.499+920C>A
ENST00000648799.1:c.714+920C>A ENSP00000498039.1:n.714+920C>A
ENST00000650005.1:c.751+920C>A ENSP00000498121.1:n.751+920C>A
ENST00000375262.3:c.673-4268C>A ENSP00000364411.2:n.673-4268C>A
ENST00000375263.7:c.822+920C>A ENSP00000364412.3:n.822+920C>A
ENST00000464104.5:n.675+920C>A
ENST00000467499.5:n.67C>A
ENST00000484816.1:n.173-167C>A
ENST00000494814.5:n.381+920C>A
NM_000197.1:c.822+920C>A NP_000188.1:n.822+920C>A
XM_005251970.3:c.462+920C>A XP_005252027.1:n.462+920C>A
XM_011518618.1:c.822+920C>A XP_011516920.1:n.822+920C>A
XM_011518619.1:c.822+920C>A XP_011516921.1:n.822+920C>A
XM_011518620.1:c.714+920C>A XP_011516922.1:n.714+920C>A
NM_000197.2:c.822+920C>A MANE Select NP_000188.1:n.822+920C>A
XM_011518618.2:c.822+920C>A XP_011516920.1:n.822+920C>A
XM_011518619.2:c.822+920C>A XP_011516921.1:n.822+920C>A
XM_017014671.1:c.822+920C>A XP_016870160.1:n.822+920C>A
XM_017014672.1:c.822+920C>A XP_016870161.1:n.822+920C>A
XM_017014673.2:c.786+920C>A XP_016870162.1:n.786+920C>A
XM_017014674.1:c.714+920C>A XP_016870163.1:n.714+920C>A
XM_017014675.1:c.660+920C>A XP_016870164.1:n.660+920C>A
XM_017014677.1:c.462+920C>A XP_016870166.1:n.462+920C>A
XM_024447529.1:c.660+920C>A XP_024303297.1:n.660+920C>A
XR_002956778.1:n.3294+920C>A