Canonical Allele Identifier: CA196609212

Gene: HSD17B3

Linked Data

• dbSNP Id: rs2066479
• MyVariant Identifiers: chr9:g.98997810C>A (hg19) ; chr9:g.96235528C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235528C>A , CM000671.2:g.96235528C>A	GRCh38
NC_000009.11:g.98997810C>A , CM000671.1:g.98997810C>A	GRCh37
NC_000009.10:g.98037631C>A	NCBI36
NG_008157.1:g.71625G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.715G>T	ENSP00000364411.2:p.Gly239Cys
ENST00000375263.8:c.865G>T MANE Select	ENSP00000364412.3:p.Gly289Cys
ENST00000463517.2:n.2407G>T
ENST00000464104.6:n.1803G>T
ENST00000467499.6:c.*564G>T	ENSP00000498077.1:n.*564G>T
ENST00000494814.6:n.415G>T
ENST00000643789.1:c.3157G>T
ENST00000648146.1:c.1003G>T	ENSP00000497238.1:n.1003G>T
ENST00000648332.1:c.542G>T	ENSP00000497562.1:n.542G>T
ENST00000650005.1:c.794G>T	ENSP00000498121.1:n.794G>T
ENST00000375262.3:c.715G>T	ENSP00000364411.2:p.Gly239Cys
ENST00000375263.7:c.865G>T	ENSP00000364412.3:p.Gly289Cys
ENST00000464104.5:n.718G>T
ENST00000467499.5:n.125G>T
ENST00000494814.5:n.424G>T
NM_000197.1:c.865G>T	NP_000188.1:p.Gly289Cys
XM_005251970.3:c.505G>T	XP_005252027.1:p.Gly169Cys
XM_011518618.1:c.865G>T	XP_011516920.1:p.Gly289Cys
XM_011518619.1:c.865G>T	XP_011516921.1:p.Gly289Cys
XM_011518620.1:c.757G>T	XP_011516922.1:p.Gly253Cys
NM_000197.2:c.865G>T MANE Select	NP_000188.1:p.Gly289Cys
XM_011518618.2:c.865G>T	XP_011516920.1:p.Gly289Cys
XM_011518619.2:c.865G>T	XP_011516921.1:p.Gly289Cys
XM_017014671.1:c.865G>T	XP_016870160.1:p.Gly289Cys
XM_017014672.1:c.865G>T	XP_016870161.1:p.Gly289Cys
XM_017014673.2:c.829G>T	XP_016870162.1:p.Gly277Cys
XM_017014674.1:c.757G>T	XP_016870163.1:p.Gly253Cys
XM_017014675.1:c.703G>T	XP_016870164.1:p.Gly235Cys
XM_017014677.1:c.505G>T	XP_016870166.1:p.Gly169Cys
XM_024447529.1:c.703G>T	XP_024303297.1:p.Gly235Cys
XR_002956778.1:n.3337G>T