Canonical Allele Identifier: CA1865974674

Gene: HSD17B3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235485A= , CM000671.2:g.96235485A=	GRCh38
NC_000009.11:g.98997767A= , CM000671.1:g.98997767A=	GRCh37
NC_000009.10:g.98037588A=	NCBI36
NG_008157.1:g.71668T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.758T=	ENSP00000364411.2:p.Leu253=
ENST00000375263.8:c.908T= MANE Select	ENSP00000364412.3:p.Leu303=
ENST00000463517.2:n.2450T=
ENST00000464104.6:n.1846T=
ENST00000467499.6:c.*607T=	ENSP00000498077.1:n.*607T=
ENST00000494814.6:n.458T=
ENST00000643789.1:c.3200T=
ENST00000648146.1:c.1046T=	ENSP00000497238.1:n.1046T=
ENST00000648332.1:c.585T=	ENSP00000497562.1:n.585T=
ENST00000650005.1:c.837T=	ENSP00000498121.1:n.837T=
ENST00000375262.3:c.758T=	ENSP00000364411.2:p.Leu253=
ENST00000375263.7:c.908T=	ENSP00000364412.3:p.Leu303=
ENST00000464104.5:n.761T=
ENST00000467499.5:n.168T=
ENST00000494814.5:n.467T=
NM_000197.1:c.908T=	NP_000188.1:p.Leu303=
XM_005251970.3:c.548T=	XP_005252027.1:p.Leu183=
XM_011518618.1:c.908T=	XP_011516920.1:p.Leu303=
XM_011518619.1:c.908T=	XP_011516921.1:p.Leu303=
XM_011518620.1:c.800T=	XP_011516922.1:p.Leu267=
NM_000197.2:c.908T= MANE Select	NP_000188.1:p.Leu303=
XM_011518618.2:c.908T=	XP_011516920.1:p.Leu303=
XM_011518619.2:c.908T=	XP_011516921.1:p.Leu303=
XM_017014671.1:c.908T=	XP_016870160.1:p.Leu303=
XM_017014672.1:c.908T=	XP_016870161.1:p.Leu303=
XM_017014673.2:c.872T=	XP_016870162.1:p.Leu291=
XM_017014674.1:c.800T=	XP_016870163.1:p.Leu267=
XM_017014675.1:c.746T=	XP_016870164.1:p.Leu249=
XM_017014677.1:c.548T=	XP_016870166.1:p.Leu183=
XM_024447529.1:c.746T=	XP_024303297.1:p.Leu249=
XR_002956778.1:n.3380T=