Canonical Allele Identifier: CA466129752

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96235568-C-A
• MyVariant Identifiers: chr9:g.98997850C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235568C>A , CM000671.2:g.96235568C>A	GRCh38
NC_000009.11:g.98997850C>A , CM000671.1:g.98997850C>A	GRCh37
NC_000009.10:g.98037671C>A	NCBI36
NG_008157.1:g.71585G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.675G>T	ENSP00000364411.2:p.Ala225=
ENST00000375263.8:c.825G>T MANE Select	ENSP00000364412.3:p.Ala275=
ENST00000463517.2:n.2367G>T
ENST00000464104.6:n.1763G>T
ENST00000467499.6:c.*524G>T	ENSP00000498077.1:n.*524G>T
ENST00000494814.6:n.375G>T
ENST00000643789.1:c.3117G>T
ENST00000648146.1:c.963G>T	ENSP00000497238.1:n.963G>T
ENST00000648332.1:c.502G>T	ENSP00000497562.1:n.502G>T
ENST00000648799.1:c.717G>T	ENSP00000498039.1:p.Ala239=
ENST00000650005.1:c.754G>T	ENSP00000498121.1:n.754G>T
ENST00000375262.3:c.675G>T	ENSP00000364411.2:p.Ala225=
ENST00000375263.7:c.825G>T	ENSP00000364412.3:p.Ala275=
ENST00000464104.5:n.678G>T
ENST00000467499.5:n.85G>T
ENST00000494814.5:n.384G>T
NM_000197.1:c.825G>T	NP_000188.1:p.Ala275=
XM_005251970.3:c.465G>T	XP_005252027.1:p.Ala155=
XM_011518618.1:c.825G>T	XP_011516920.1:p.Ala275=
XM_011518619.1:c.825G>T	XP_011516921.1:p.Ala275=
XM_011518620.1:c.717G>T	XP_011516922.1:p.Ala239=
NM_000197.2:c.825G>T MANE Select	NP_000188.1:p.Ala275=
XM_011518618.2:c.825G>T	XP_011516920.1:p.Ala275=
XM_011518619.2:c.825G>T	XP_011516921.1:p.Ala275=
XM_017014671.1:c.825G>T	XP_016870160.1:p.Ala275=
XM_017014672.1:c.825G>T	XP_016870161.1:p.Ala275=
XM_017014673.2:c.789G>T	XP_016870162.1:p.Ala263=
XM_017014674.1:c.717G>T	XP_016870163.1:p.Ala239=
XM_017014675.1:c.663G>T	XP_016870164.1:p.Ala221=
XM_017014677.1:c.465G>T	XP_016870166.1:p.Ala155=
XM_024447529.1:c.663G>T	XP_024303297.1:p.Ala221=
XR_002956778.1:n.3297G>T