Canonical Allele Identifier: CA374121595

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997765T>C (hg19) ; chr9:g.96235483T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235483T>C , CM000671.2:g.96235483T>C	GRCh38
NC_000009.11:g.98997765T>C , CM000671.1:g.98997765T>C	GRCh37
NC_000009.10:g.98037586T>C	NCBI36
NG_008157.1:g.71670A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.760A>G	ENSP00000364411.2:p.Lys254Glu
ENST00000375263.8:c.910A>G MANE Select	ENSP00000364412.3:p.Lys304Glu
ENST00000463517.2:n.2452A>G
ENST00000464104.6:n.1848A>G
ENST00000467499.6:c.*609A>G	ENSP00000498077.1:n.*609A>G
ENST00000494814.6:n.460A>G
ENST00000643789.1:c.3202A>G
ENST00000648146.1:c.1048A>G	ENSP00000497238.1:n.1048A>G
ENST00000648332.1:c.587A>G	ENSP00000497562.1:n.587A>G
ENST00000650005.1:c.839A>G	ENSP00000498121.1:n.839A>G
ENST00000375262.3:c.760A>G	ENSP00000364411.2:p.Lys254Glu
ENST00000375263.7:c.910A>G	ENSP00000364412.3:p.Lys304Glu
ENST00000464104.5:n.763A>G
ENST00000467499.5:n.170A>G
ENST00000494814.5:n.469A>G
NM_000197.1:c.910A>G	NP_000188.1:p.Lys304Glu
XM_005251970.3:c.550A>G	XP_005252027.1:p.Lys184Glu
XM_011518618.1:c.910A>G	XP_011516920.1:p.Lys304Glu
XM_011518619.1:c.910A>G	XP_011516921.1:p.Lys304Glu
XM_011518620.1:c.802A>G	XP_011516922.1:p.Lys268Glu
NM_000197.2:c.910A>G MANE Select	NP_000188.1:p.Lys304Glu
XM_011518618.2:c.910A>G	XP_011516920.1:p.Lys304Glu
XM_011518619.2:c.910A>G	XP_011516921.1:p.Lys304Glu
XM_017014671.1:c.910A>G	XP_016870160.1:p.Lys304Glu
XM_017014672.1:c.910A>G	XP_016870161.1:p.Lys304Glu
XM_017014673.2:c.874A>G	XP_016870162.1:p.Lys292Glu
XM_017014674.1:c.802A>G	XP_016870163.1:p.Lys268Glu
XM_017014675.1:c.748A>G	XP_016870164.1:p.Lys250Glu
XM_017014677.1:c.550A>G	XP_016870166.1:p.Lys184Glu
XM_024447529.1:c.748A>G	XP_024303297.1:p.Lys250Glu
XR_002956778.1:n.3382A>G