Canonical Allele Identifier: CA374121837

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997804A>C (hg19) ; chr9:g.96235522A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235522A>C , CM000671.2:g.96235522A>C	GRCh38
NC_000009.11:g.98997804A>C , CM000671.1:g.98997804A>C	GRCh37
NC_000009.10:g.98037625A>C	NCBI36
NG_008157.1:g.71631T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.721T>G	ENSP00000364411.2:p.Phe241Val
ENST00000375263.8:c.871T>G MANE Select	ENSP00000364412.3:p.Phe291Val
ENST00000463517.2:n.2413T>G
ENST00000464104.6:n.1809T>G
ENST00000467499.6:c.*570T>G	ENSP00000498077.1:n.*570T>G
ENST00000494814.6:n.421T>G
ENST00000643789.1:c.3163T>G
ENST00000648146.1:c.1009T>G	ENSP00000497238.1:n.1009T>G
ENST00000648332.1:c.548T>G	ENSP00000497562.1:n.548T>G
ENST00000650005.1:c.800T>G	ENSP00000498121.1:n.800T>G
ENST00000375262.3:c.721T>G	ENSP00000364411.2:p.Phe241Val
ENST00000375263.7:c.871T>G	ENSP00000364412.3:p.Phe291Val
ENST00000464104.5:n.724T>G
ENST00000467499.5:n.131T>G
ENST00000494814.5:n.430T>G
NM_000197.1:c.871T>G	NP_000188.1:p.Phe291Val
XM_005251970.3:c.511T>G	XP_005252027.1:p.Phe171Val
XM_011518618.1:c.871T>G	XP_011516920.1:p.Phe291Val
XM_011518619.1:c.871T>G	XP_011516921.1:p.Phe291Val
XM_011518620.1:c.763T>G	XP_011516922.1:p.Phe255Val
NM_000197.2:c.871T>G MANE Select	NP_000188.1:p.Phe291Val
XM_011518618.2:c.871T>G	XP_011516920.1:p.Phe291Val
XM_011518619.2:c.871T>G	XP_011516921.1:p.Phe291Val
XM_017014671.1:c.871T>G	XP_016870160.1:p.Phe291Val
XM_017014672.1:c.871T>G	XP_016870161.1:p.Phe291Val
XM_017014673.2:c.835T>G	XP_016870162.1:p.Phe279Val
XM_017014674.1:c.763T>G	XP_016870163.1:p.Phe255Val
XM_017014675.1:c.709T>G	XP_016870164.1:p.Phe237Val
XM_017014677.1:c.511T>G	XP_016870166.1:p.Phe171Val
XM_024447529.1:c.709T>G	XP_024303297.1:p.Phe237Val
XR_002956778.1:n.3343T>G