Canonical Allele Identifier: CA1628438574

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659197T= , CM000668.2:g.51659197T=	GRCh38
NC_000006.11:g.51523995T= , CM000668.1:g.51523995T=	GRCh37
NC_000006.10:g.51631954T=	NCBI36
NG_008753.1:g.433429A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10929A= MANE Select	ENSP00000360158.3:p.Glu3643=
ENST00000371117.7:c.10929A=	ENSP00000360158.3:p.Glu3643=
NM_138694.3:c.10929A=	NP_619639.3:p.Glu3643=
XM_011514679.1:c.10929A=	XP_011512981.1:p.Glu3643=
XM_011514680.1:c.10929A=	XP_011512982.1:p.Glu3643=
XM_011514681.1:c.10800A=	XP_011512983.1:p.Glu3600=
XM_011514682.1:c.10791A=	XP_011512984.1:p.Glu3597=
XM_011514683.1:c.10287A=	XP_011512985.1:p.Glu3429=
XM_011514684.1:c.10218A=	XP_011512986.1:p.Glu3406=
XM_011514687.1:c.10157-9977A=	XP_011512989.1:n.10157-9977A=
XM_011514690.1:c.5004A=	XP_011512992.1:p.Glu1668=
XM_011514691.1:c.5004A=	XP_011512993.1:p.Glu1668=
XR_926870.1:n.535+6824T=
XR_926871.1:n.403+6824T=
XR_926872.1:n.535+6824T=
XM_011514680.3:c.10929A=	XP_011512982.1:p.Glu3643=
XM_011514682.3:c.10791A=	XP_011512984.1:p.Glu3597=
XM_011514683.3:c.10287A=	XP_011512985.1:p.Glu3429=
XM_011514684.3:c.10218A=	XP_011512986.1:p.Glu3406=
XM_011514690.3:c.5004A=	XP_011512992.1:p.Glu1668=
XM_011514691.3:c.5004A=	XP_011512993.1:p.Glu1668=
XM_017010944.2:c.10929A=	XP_016866433.1:p.Glu3643=
XM_017010945.2:c.10854A=	XP_016866434.1:p.Glu3618=
XM_017010946.2:c.10734A=	XP_016866435.1:p.Glu3578=
XM_017010947.2:c.10665A=	XP_016866436.1:p.Glu3555=
XM_017010948.2:c.10218A=	XP_016866437.1:p.Glu3406=
XM_017010949.2:c.9069A=	XP_016866438.1:p.Glu3023=
XR_001743469.1:n.11205A=
XR_001744157.1:n.3145+6824T=
XR_926870.2:n.3145+6824T=
XR_926871.2:n.3013+6824T=
XR_926872.2:n.3145+6824T=
NM_138694.4:c.10929A= MANE Select	NP_619639.3:p.Glu3643=