Canonical Allele Identifier: CA196612809

Gene: HSD17B3

Linked Data

• dbSNP Id: rs374381218
• gnomAD v3: 9-96239788-T-C
• gnomAD v4: 9-96239788-T-C
• MyVariant Identifiers: chr9:g.99002070T>C (hg19) ; chr9:g.96239788T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96239788T>C , CM000671.2:g.96239788T>C	GRCh38
NC_000009.11:g.99002070T>C , CM000671.1:g.99002070T>C	GRCh37
NC_000009.10:g.98041891T>C	NCBI36
NG_008157.1:g.67365A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.673-4218A>G	ENSP00000364411.2:n.673-4218A>G
ENST00000375263.8:c.822+970A>G MANE Select	ENSP00000364412.3:n.822+970A>G
ENST00000463517.2:n.2364+970A>G
ENST00000464104.6:n.1760+970A>G
ENST00000467499.6:c.*521+970A>G	ENSP00000498077.1:n.*521+970A>G
ENST00000484816.2:n.174-117A>G
ENST00000494814.6:n.372+970A>G
ENST00000643789.1:c.3114+970A>G
ENST00000648146.1:c.960+35A>G	ENSP00000497238.1:n.960+35A>G
ENST00000648332.1:c.499+970A>G	ENSP00000497562.1:n.499+970A>G
ENST00000648799.1:c.714+970A>G	ENSP00000498039.1:n.714+970A>G
ENST00000650005.1:c.751+970A>G	ENSP00000498121.1:n.751+970A>G
ENST00000375262.3:c.673-4218A>G	ENSP00000364411.2:n.673-4218A>G
ENST00000375263.7:c.822+970A>G	ENSP00000364412.3:n.822+970A>G
ENST00000464104.5:n.675+970A>G
ENST00000467499.5:n.82+35A>G
ENST00000484816.1:n.173-117A>G
ENST00000494814.5:n.381+970A>G
NM_000197.1:c.822+970A>G	NP_000188.1:n.822+970A>G
XM_005251970.3:c.462+970A>G	XP_005252027.1:n.462+970A>G
XM_011518618.1:c.822+970A>G	XP_011516920.1:n.822+970A>G
XM_011518619.1:c.822+970A>G	XP_011516921.1:n.822+970A>G
XM_011518620.1:c.714+970A>G	XP_011516922.1:n.714+970A>G
NM_000197.2:c.822+970A>G MANE Select	NP_000188.1:n.822+970A>G
XM_011518618.2:c.822+970A>G	XP_011516920.1:n.822+970A>G
XM_011518619.2:c.822+970A>G	XP_011516921.1:n.822+970A>G
XM_017014671.1:c.822+970A>G	XP_016870160.1:n.822+970A>G
XM_017014672.1:c.822+970A>G	XP_016870161.1:n.822+970A>G
XM_017014673.2:c.786+970A>G	XP_016870162.1:n.786+970A>G
XM_017014674.1:c.714+970A>G	XP_016870163.1:n.714+970A>G
XM_017014675.1:c.660+970A>G	XP_016870164.1:n.660+970A>G
XM_017014677.1:c.462+970A>G	XP_016870166.1:n.462+970A>G
XM_024447529.1:c.660+970A>G	XP_024303297.1:n.660+970A>G
XR_002956778.1:n.3294+970A>G