Canonical Allele Identifier: CA466129718

Gene: HSD17B3

Linked Data

• ClinVar Variation Id: 2710983
• ClinVar RCV Id: RCV003552684
• dbSNP Id: rs1836202937
• MyVariant Identifiers: chr9:g.98997838G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235556G>A , CM000671.2:g.96235556G>A	GRCh38
NC_000009.11:g.98997838G>A , CM000671.1:g.98997838G>A	GRCh37
NC_000009.10:g.98037659G>A	NCBI36
NG_008157.1:g.71597C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.687C>T	ENSP00000364411.2:p.Ser229=
ENST00000375263.8:c.837C>T MANE Select	ENSP00000364412.3:p.Ser279=
ENST00000463517.2:n.2379C>T
ENST00000464104.6:n.1775C>T
ENST00000467499.6:c.*536C>T	ENSP00000498077.1:n.*536C>T
ENST00000494814.6:n.387C>T
ENST00000643789.1:c.3129C>T
ENST00000648146.1:c.975C>T	ENSP00000497238.1:n.975C>T
ENST00000648332.1:c.514C>T	ENSP00000497562.1:n.514C>T
ENST00000648799.1:c.729C>T	ENSP00000498039.1:p.Ser243=
ENST00000650005.1:c.766C>T	ENSP00000498121.1:n.766C>T
ENST00000375262.3:c.687C>T	ENSP00000364411.2:p.Ser229=
ENST00000375263.7:c.837C>T	ENSP00000364412.3:p.Ser279=
ENST00000464104.5:n.690C>T
ENST00000467499.5:n.97C>T
ENST00000494814.5:n.396C>T
NM_000197.1:c.837C>T	NP_000188.1:p.Ser279=
XM_005251970.3:c.477C>T	XP_005252027.1:p.Ser159=
XM_011518618.1:c.837C>T	XP_011516920.1:p.Ser279=
XM_011518619.1:c.837C>T	XP_011516921.1:p.Ser279=
XM_011518620.1:c.729C>T	XP_011516922.1:p.Ser243=
NM_000197.2:c.837C>T MANE Select	NP_000188.1:p.Ser279=
XM_011518618.2:c.837C>T	XP_011516920.1:p.Ser279=
XM_011518619.2:c.837C>T	XP_011516921.1:p.Ser279=
XM_017014671.1:c.837C>T	XP_016870160.1:p.Ser279=
XM_017014672.1:c.837C>T	XP_016870161.1:p.Ser279=
XM_017014673.2:c.801C>T	XP_016870162.1:p.Ser267=
XM_017014674.1:c.729C>T	XP_016870163.1:p.Ser243=
XM_017014675.1:c.675C>T	XP_016870164.1:p.Ser225=
XM_017014677.1:c.477C>T	XP_016870166.1:p.Ser159=
XM_024447529.1:c.675C>T	XP_024303297.1:p.Ser225=
XR_002956778.1:n.3309C>T