Canonical Allele Identifier: CA466129609

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997793C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235511C>G , CM000671.2:g.96235511C>G	GRCh38
NC_000009.11:g.98997793C>G , CM000671.1:g.98997793C>G	GRCh37
NC_000009.10:g.98037614C>G	NCBI36
NG_008157.1:g.71642G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.732G>C	ENSP00000364411.2:p.Leu244=
ENST00000375263.8:c.882G>C MANE Select	ENSP00000364412.3:p.Leu294=
ENST00000463517.2:n.2424G>C
ENST00000464104.6:n.1820G>C
ENST00000467499.6:c.*581G>C	ENSP00000498077.1:n.*581G>C
ENST00000494814.6:n.432G>C
ENST00000643789.1:c.3174G>C
ENST00000648146.1:c.1020G>C	ENSP00000497238.1:n.1020G>C
ENST00000648332.1:c.559G>C	ENSP00000497562.1:n.559G>C
ENST00000650005.1:c.811G>C	ENSP00000498121.1:n.811G>C
ENST00000375262.3:c.732G>C	ENSP00000364411.2:p.Leu244=
ENST00000375263.7:c.882G>C	ENSP00000364412.3:p.Leu294=
ENST00000464104.5:n.735G>C
ENST00000467499.5:n.142G>C
ENST00000494814.5:n.441G>C
NM_000197.1:c.882G>C	NP_000188.1:p.Leu294=
XM_005251970.3:c.522G>C	XP_005252027.1:p.Leu174=
XM_011518618.1:c.882G>C	XP_011516920.1:p.Leu294=
XM_011518619.1:c.882G>C	XP_011516921.1:p.Leu294=
XM_011518620.1:c.774G>C	XP_011516922.1:p.Leu258=
NM_000197.2:c.882G>C MANE Select	NP_000188.1:p.Leu294=
XM_011518618.2:c.882G>C	XP_011516920.1:p.Leu294=
XM_011518619.2:c.882G>C	XP_011516921.1:p.Leu294=
XM_017014671.1:c.882G>C	XP_016870160.1:p.Leu294=
XM_017014672.1:c.882G>C	XP_016870161.1:p.Leu294=
XM_017014673.2:c.846G>C	XP_016870162.1:p.Leu282=
XM_017014674.1:c.774G>C	XP_016870163.1:p.Leu258=
XM_017014675.1:c.720G>C	XP_016870164.1:p.Leu240=
XM_017014677.1:c.522G>C	XP_016870166.1:p.Leu174=
XM_024447529.1:c.720G>C	XP_024303297.1:p.Leu240=
XR_002956778.1:n.3354G>C