Canonical Allele Identifier: CA1628438661

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659228C= , CM000668.2:g.51659228C=	GRCh38
NC_000006.11:g.51524026C= , CM000668.1:g.51524026C=	GRCh37
NC_000006.10:g.51631985C=	NCBI36
NG_008753.1:g.433398G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10898G= MANE Select	ENSP00000360158.3:p.Arg3633=
ENST00000371117.7:c.10898G=	ENSP00000360158.3:p.Arg3633=
NM_138694.3:c.10898G=	NP_619639.3:p.Arg3633=
XM_011514679.1:c.10898G=	XP_011512981.1:p.Arg3633=
XM_011514680.1:c.10898G=	XP_011512982.1:p.Arg3633=
XM_011514681.1:c.10769G=	XP_011512983.1:p.Arg3590=
XM_011514682.1:c.10760G=	XP_011512984.1:p.Arg3587=
XM_011514683.1:c.10256G=	XP_011512985.1:p.Arg3419=
XM_011514684.1:c.10187G=	XP_011512986.1:p.Arg3396=
XM_011514687.1:c.10157-10008G=	XP_011512989.1:n.10157-10008G=
XM_011514690.1:c.4973G=	XP_011512992.1:p.Arg1658=
XM_011514691.1:c.4973G=	XP_011512993.1:p.Arg1658=
XR_926870.1:n.535+6855C=
XR_926871.1:n.403+6855C=
XR_926872.1:n.535+6855C=
XM_011514680.3:c.10898G=	XP_011512982.1:p.Arg3633=
XM_011514682.3:c.10760G=	XP_011512984.1:p.Arg3587=
XM_011514683.3:c.10256G=	XP_011512985.1:p.Arg3419=
XM_011514684.3:c.10187G=	XP_011512986.1:p.Arg3396=
XM_011514690.3:c.4973G=	XP_011512992.1:p.Arg1658=
XM_011514691.3:c.4973G=	XP_011512993.1:p.Arg1658=
XM_017010944.2:c.10898G=	XP_016866433.1:p.Arg3633=
XM_017010945.2:c.10823G=	XP_016866434.1:p.Arg3608=
XM_017010946.2:c.10703G=	XP_016866435.1:p.Arg3568=
XM_017010947.2:c.10634G=	XP_016866436.1:p.Arg3545=
XM_017010948.2:c.10187G=	XP_016866437.1:p.Arg3396=
XM_017010949.2:c.9038G=	XP_016866438.1:p.Arg3013=
XR_001743469.1:n.11174G=
XR_001744157.1:n.3145+6855C=
XR_926870.2:n.3145+6855C=
XR_926871.2:n.3013+6855C=
XR_926872.2:n.3145+6855C=
NM_138694.4:c.10898G= MANE Select	NP_619639.3:p.Arg3633=