Canonical Allele Identifier: CA374122038

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997844A>C (hg19) ; chr9:g.96235562A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235562A>C , CM000671.2:g.96235562A>C	GRCh38
NC_000009.11:g.98997844A>C , CM000671.1:g.98997844A>C	GRCh37
NC_000009.10:g.98037665A>C	NCBI36
NG_008157.1:g.71591T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.681T>G	ENSP00000364411.2:p.Phe227Leu
ENST00000375263.8:c.831T>G MANE Select	ENSP00000364412.3:p.Phe277Leu
ENST00000463517.2:n.2373T>G
ENST00000464104.6:n.1769T>G
ENST00000467499.6:c.*530T>G	ENSP00000498077.1:n.*530T>G
ENST00000494814.6:n.381T>G
ENST00000643789.1:c.3123T>G
ENST00000648146.1:c.969T>G	ENSP00000497238.1:n.969T>G
ENST00000648332.1:c.508T>G	ENSP00000497562.1:n.508T>G
ENST00000648799.1:c.723T>G	ENSP00000498039.1:p.Phe241Leu
ENST00000650005.1:c.760T>G	ENSP00000498121.1:n.760T>G
ENST00000375262.3:c.681T>G	ENSP00000364411.2:p.Phe227Leu
ENST00000375263.7:c.831T>G	ENSP00000364412.3:p.Phe277Leu
ENST00000464104.5:n.684T>G
ENST00000467499.5:n.91T>G
ENST00000494814.5:n.390T>G
NM_000197.1:c.831T>G	NP_000188.1:p.Phe277Leu
XM_005251970.3:c.471T>G	XP_005252027.1:p.Phe157Leu
XM_011518618.1:c.831T>G	XP_011516920.1:p.Phe277Leu
XM_011518619.1:c.831T>G	XP_011516921.1:p.Phe277Leu
XM_011518620.1:c.723T>G	XP_011516922.1:p.Phe241Leu
NM_000197.2:c.831T>G MANE Select	NP_000188.1:p.Phe277Leu
XM_011518618.2:c.831T>G	XP_011516920.1:p.Phe277Leu
XM_011518619.2:c.831T>G	XP_011516921.1:p.Phe277Leu
XM_017014671.1:c.831T>G	XP_016870160.1:p.Phe277Leu
XM_017014672.1:c.831T>G	XP_016870161.1:p.Phe277Leu
XM_017014673.2:c.795T>G	XP_016870162.1:p.Phe265Leu
XM_017014674.1:c.723T>G	XP_016870163.1:p.Phe241Leu
XM_017014675.1:c.669T>G	XP_016870164.1:p.Phe223Leu
XM_017014677.1:c.471T>G	XP_016870166.1:p.Phe157Leu
XM_024447529.1:c.669T>G	XP_024303297.1:p.Phe223Leu
XR_002956778.1:n.3303T>G