Canonical Allele Identifier: CA374121865

Gene: HSD17B3

Linked Data

• dbSNP Id: rs1836201358
• MyVariant Identifiers: chr9:g.98997813T>A (hg19) ; chr9:g.96235531T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.712A>T	ENSP00000364411.2:p.Ser238Cys
ENST00000375263.8:c.862A>T MANE Select	ENSP00000364412.3:p.Ser288Cys
ENST00000463517.2:n.2404A>T
ENST00000464104.6:n.1800A>T
ENST00000467499.6:c.*561A>T	ENSP00000498077.1:n.*561A>T
ENST00000494814.6:n.412A>T
ENST00000643789.1:c.3154A>T
ENST00000648146.1:c.1000A>T	ENSP00000497238.1:n.1000A>T
ENST00000648332.1:c.539A>T	ENSP00000497562.1:n.539A>T
ENST00000650005.1:c.791A>T	ENSP00000498121.1:n.791A>T
ENST00000375262.3:c.712A>T	ENSP00000364411.2:p.Ser238Cys
ENST00000375263.7:c.862A>T	ENSP00000364412.3:p.Ser288Cys
ENST00000464104.5:n.715A>T
ENST00000467499.5:n.122A>T
ENST00000494814.5:n.421A>T
NM_000197.1:c.862A>T	NP_000188.1:p.Ser288Cys
XM_005251970.3:c.502A>T	XP_005252027.1:p.Ser168Cys
XM_011518618.1:c.862A>T	XP_011516920.1:p.Ser288Cys
XM_011518619.1:c.862A>T	XP_011516921.1:p.Ser288Cys
XM_011518620.1:c.754A>T	XP_011516922.1:p.Ser252Cys
NM_000197.2:c.862A>T MANE Select	NP_000188.1:p.Ser288Cys
XM_011518618.2:c.862A>T	XP_011516920.1:p.Ser288Cys
XM_011518619.2:c.862A>T	XP_011516921.1:p.Ser288Cys
XM_017014671.1:c.862A>T	XP_016870160.1:p.Ser288Cys
XM_017014672.1:c.862A>T	XP_016870161.1:p.Ser288Cys
XM_017014673.2:c.826A>T	XP_016870162.1:p.Ser276Cys
XM_017014674.1:c.754A>T	XP_016870163.1:p.Ser252Cys
XM_017014675.1:c.700A>T	XP_016870164.1:p.Ser234Cys
XM_017014677.1:c.502A>T	XP_016870166.1:p.Ser168Cys
XM_024447529.1:c.700A>T	XP_024303297.1:p.Ser234Cys
XR_002956778.1:n.3334A>T