Canonical Allele Identifier: CA466130853

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96240887-G-C
• MyVariant Identifiers: chr9:g.99003169G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96240887G>C , CM000671.2:g.96240887G>C	GRCh38
NC_000009.11:g.99003169G>C , CM000671.1:g.99003169G>C	GRCh37
NC_000009.10:g.98042990G>C	NCBI36
NG_008157.1:g.66266C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.672+3442C>G	ENSP00000364411.2:n.672+3442C>G
ENST00000375263.8:c.693C>G MANE Select	ENSP00000364412.3:p.Val231=
ENST00000463517.2:n.2235C>G
ENST00000464104.6:n.1631C>G
ENST00000467499.6:c.*392C>G	ENSP00000498077.1:n.*392C>G
ENST00000484816.2:n.44C>G
ENST00000494814.6:n.243C>G
ENST00000643789.1:c.2985C>G
ENST00000648146.1:c.693C>G	ENSP00000497238.1:p.Val231=
ENST00000648332.1:c.370C>G	ENSP00000497562.1:n.370C>G
ENST00000648799.1:c.585C>G	ENSP00000498039.1:p.Val195=
ENST00000650005.1:c.622C>G	ENSP00000498121.1:n.622C>G
ENST00000375262.3:c.672+3442C>G	ENSP00000364411.2:n.672+3442C>G
ENST00000375263.7:c.693C>G	ENSP00000364412.3:p.Val231=
ENST00000464104.5:n.546C>G
ENST00000484816.1:n.43C>G
ENST00000494814.5:n.252C>G
NM_000197.1:c.693C>G	NP_000188.1:p.Val231=
XM_005251970.3:c.333C>G	XP_005252027.1:p.Val111=
XM_011518618.1:c.693C>G	XP_011516920.1:p.Val231=
XM_011518619.1:c.693C>G	XP_011516921.1:p.Val231=
XM_011518620.1:c.585C>G	XP_011516922.1:p.Val195=
XM_011518621.1:c.*14C>G	XP_011516923.1:n.*14C>G
NM_000197.2:c.693C>G MANE Select	NP_000188.1:p.Val231=
XM_011518618.2:c.693C>G	XP_011516920.1:p.Val231=
XM_011518619.2:c.693C>G	XP_011516921.1:p.Val231=
XM_017014671.1:c.693C>G	XP_016870160.1:p.Val231=
XM_017014672.1:c.693C>G	XP_016870161.1:p.Val231=
XM_017014673.2:c.657C>G	XP_016870162.1:p.Val219=
XM_017014674.1:c.585C>G	XP_016870163.1:p.Val195=
XM_017014675.1:c.531C>G	XP_016870164.1:p.Val177=
XM_017014677.1:c.333C>G	XP_016870166.1:p.Val111=
XM_024447529.1:c.531C>G	XP_024303297.1:p.Val177=
XR_002956778.1:n.3165C>G