Canonical Allele Identifier: CA466129544

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96235490-T-C
• MyVariant Identifiers: chr9:g.98997772T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235490T>C , CM000671.2:g.96235490T>C	GRCh38
NC_000009.11:g.98997772T>C , CM000671.1:g.98997772T>C	GRCh37
NC_000009.10:g.98037593T>C	NCBI36
NG_008157.1:g.71663A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.753A>G	ENSP00000364411.2:p.Ala251=
ENST00000375263.8:c.903A>G MANE Select	ENSP00000364412.3:p.Ala301=
ENST00000463517.2:n.2445A>G
ENST00000464104.6:n.1841A>G
ENST00000467499.6:c.*602A>G	ENSP00000498077.1:n.*602A>G
ENST00000494814.6:n.453A>G
ENST00000643789.1:c.3195A>G
ENST00000648146.1:c.1041A>G	ENSP00000497238.1:n.1041A>G
ENST00000648332.1:c.580A>G	ENSP00000497562.1:n.580A>G
ENST00000650005.1:c.832A>G	ENSP00000498121.1:n.832A>G
ENST00000375262.3:c.753A>G	ENSP00000364411.2:p.Ala251=
ENST00000375263.7:c.903A>G	ENSP00000364412.3:p.Ala301=
ENST00000464104.5:n.756A>G
ENST00000467499.5:n.163A>G
ENST00000494814.5:n.462A>G
NM_000197.1:c.903A>G	NP_000188.1:p.Ala301=
XM_005251970.3:c.543A>G	XP_005252027.1:p.Ala181=
XM_011518618.1:c.903A>G	XP_011516920.1:p.Ala301=
XM_011518619.1:c.903A>G	XP_011516921.1:p.Ala301=
XM_011518620.1:c.795A>G	XP_011516922.1:p.Ala265=
NM_000197.2:c.903A>G MANE Select	NP_000188.1:p.Ala301=
XM_011518618.2:c.903A>G	XP_011516920.1:p.Ala301=
XM_011518619.2:c.903A>G	XP_011516921.1:p.Ala301=
XM_017014671.1:c.903A>G	XP_016870160.1:p.Ala301=
XM_017014672.1:c.903A>G	XP_016870161.1:p.Ala301=
XM_017014673.2:c.867A>G	XP_016870162.1:p.Ala289=
XM_017014674.1:c.795A>G	XP_016870163.1:p.Ala265=
XM_017014675.1:c.741A>G	XP_016870164.1:p.Ala247=
XM_017014677.1:c.543A>G	XP_016870166.1:p.Ala181=
XM_024447529.1:c.741A>G	XP_024303297.1:p.Ala247=
XR_002956778.1:n.3375A>G