Canonical Allele Identifier: CA466129676

Gene: HSD17B3

Linked Data

• dbSNP Id: rs1309449011
• gnomAD v2: 9-98997820-G-A
• gnomAD v4: 9-96235538-G-A
• MyVariant Identifiers: chr9:g.98997820G>A (hg19) ; chr9:g.96235538G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235538G>A , CM000671.2:g.96235538G>A	GRCh38
NC_000009.11:g.98997820G>A , CM000671.1:g.98997820G>A	GRCh37
NC_000009.10:g.98037641G>A	NCBI36
NG_008157.1:g.71615C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.705C>T	ENSP00000364411.2:p.Ala235=
ENST00000375263.8:c.855C>T MANE Select	ENSP00000364412.3:p.Ala285=
ENST00000463517.2:n.2397C>T
ENST00000464104.6:n.1793C>T
ENST00000467499.6:c.*554C>T	ENSP00000498077.1:n.*554C>T
ENST00000494814.6:n.405C>T
ENST00000643789.1:c.3147C>T
ENST00000648146.1:c.993C>T	ENSP00000497238.1:n.993C>T
ENST00000648332.1:c.532C>T	ENSP00000497562.1:n.532C>T
ENST00000650005.1:c.784C>T	ENSP00000498121.1:n.784C>T
ENST00000375262.3:c.705C>T	ENSP00000364411.2:p.Ala235=
ENST00000375263.7:c.855C>T	ENSP00000364412.3:p.Ala285=
ENST00000464104.5:n.708C>T
ENST00000467499.5:n.115C>T
ENST00000494814.5:n.414C>T
NM_000197.1:c.855C>T	NP_000188.1:p.Ala285=
XM_005251970.3:c.495C>T	XP_005252027.1:p.Ala165=
XM_011518618.1:c.855C>T	XP_011516920.1:p.Ala285=
XM_011518619.1:c.855C>T	XP_011516921.1:p.Ala285=
XM_011518620.1:c.747C>T	XP_011516922.1:p.Ala249=
NM_000197.2:c.855C>T MANE Select	NP_000188.1:p.Ala285=
XM_011518618.2:c.855C>T	XP_011516920.1:p.Ala285=
XM_011518619.2:c.855C>T	XP_011516921.1:p.Ala285=
XM_017014671.1:c.855C>T	XP_016870160.1:p.Ala285=
XM_017014672.1:c.855C>T	XP_016870161.1:p.Ala285=
XM_017014673.2:c.819C>T	XP_016870162.1:p.Ala273=
XM_017014674.1:c.747C>T	XP_016870163.1:p.Ala249=
XM_017014675.1:c.693C>T	XP_016870164.1:p.Ala231=
XM_017014677.1:c.495C>T	XP_016870166.1:p.Ala165=
XM_024447529.1:c.693C>T	XP_024303297.1:p.Ala231=
XR_002956778.1:n.3327C>T