Canonical Allele Identifier: CA374121863

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997813T>G (hg19) ; chr9:g.96235531T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235531T>G , CM000671.2:g.96235531T>G	GRCh38
NC_000009.11:g.98997813T>G , CM000671.1:g.98997813T>G	GRCh37
NC_000009.10:g.98037634T>G	NCBI36
NG_008157.1:g.71622A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.712A>C	ENSP00000364411.2:p.Ser238Arg
ENST00000375263.8:c.862A>C MANE Select	ENSP00000364412.3:p.Ser288Arg
ENST00000463517.2:n.2404A>C
ENST00000464104.6:n.1800A>C
ENST00000467499.6:c.*561A>C	ENSP00000498077.1:n.*561A>C
ENST00000494814.6:n.412A>C
ENST00000643789.1:c.3154A>C
ENST00000648146.1:c.1000A>C	ENSP00000497238.1:n.1000A>C
ENST00000648332.1:c.539A>C	ENSP00000497562.1:n.539A>C
ENST00000650005.1:c.791A>C	ENSP00000498121.1:n.791A>C
ENST00000375262.3:c.712A>C	ENSP00000364411.2:p.Ser238Arg
ENST00000375263.7:c.862A>C	ENSP00000364412.3:p.Ser288Arg
ENST00000464104.5:n.715A>C
ENST00000467499.5:n.122A>C
ENST00000494814.5:n.421A>C
NM_000197.1:c.862A>C	NP_000188.1:p.Ser288Arg
XM_005251970.3:c.502A>C	XP_005252027.1:p.Ser168Arg
XM_011518618.1:c.862A>C	XP_011516920.1:p.Ser288Arg
XM_011518619.1:c.862A>C	XP_011516921.1:p.Ser288Arg
XM_011518620.1:c.754A>C	XP_011516922.1:p.Ser252Arg
NM_000197.2:c.862A>C MANE Select	NP_000188.1:p.Ser288Arg
XM_011518618.2:c.862A>C	XP_011516920.1:p.Ser288Arg
XM_011518619.2:c.862A>C	XP_011516921.1:p.Ser288Arg
XM_017014671.1:c.862A>C	XP_016870160.1:p.Ser288Arg
XM_017014672.1:c.862A>C	XP_016870161.1:p.Ser288Arg
XM_017014673.2:c.826A>C	XP_016870162.1:p.Ser276Arg
XM_017014674.1:c.754A>C	XP_016870163.1:p.Ser252Arg
XM_017014675.1:c.700A>C	XP_016870164.1:p.Ser234Arg
XM_017014677.1:c.502A>C	XP_016870166.1:p.Ser168Arg
XM_024447529.1:c.700A>C	XP_024303297.1:p.Ser234Arg
XR_002956778.1:n.3334A>C