Canonical Allele Identifier: CA1628438613

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659214T= , CM000668.2:g.51659214T=	GRCh38
NC_000006.11:g.51524012T= , CM000668.1:g.51524012T=	GRCh37
NC_000006.10:g.51631971T=	NCBI36
NG_008753.1:g.433412A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10912A= MANE Select	ENSP00000360158.3:p.Arg3638=
ENST00000371117.7:c.10912A=	ENSP00000360158.3:p.Arg3638=
NM_138694.3:c.10912A=	NP_619639.3:p.Arg3638=
XM_011514679.1:c.10912A=	XP_011512981.1:p.Arg3638=
XM_011514680.1:c.10912A=	XP_011512982.1:p.Arg3638=
XM_011514681.1:c.10783A=	XP_011512983.1:p.Arg3595=
XM_011514682.1:c.10774A=	XP_011512984.1:p.Arg3592=
XM_011514683.1:c.10270A=	XP_011512985.1:p.Arg3424=
XM_011514684.1:c.10201A=	XP_011512986.1:p.Arg3401=
XM_011514687.1:c.10157-9994A=	XP_011512989.1:n.10157-9994A=
XM_011514690.1:c.4987A=	XP_011512992.1:p.Arg1663=
XM_011514691.1:c.4987A=	XP_011512993.1:p.Arg1663=
XR_926870.1:n.535+6841T=
XR_926871.1:n.403+6841T=
XR_926872.1:n.535+6841T=
XM_011514680.3:c.10912A=	XP_011512982.1:p.Arg3638=
XM_011514682.3:c.10774A=	XP_011512984.1:p.Arg3592=
XM_011514683.3:c.10270A=	XP_011512985.1:p.Arg3424=
XM_011514684.3:c.10201A=	XP_011512986.1:p.Arg3401=
XM_011514690.3:c.4987A=	XP_011512992.1:p.Arg1663=
XM_011514691.3:c.4987A=	XP_011512993.1:p.Arg1663=
XM_017010944.2:c.10912A=	XP_016866433.1:p.Arg3638=
XM_017010945.2:c.10837A=	XP_016866434.1:p.Arg3613=
XM_017010946.2:c.10717A=	XP_016866435.1:p.Arg3573=
XM_017010947.2:c.10648A=	XP_016866436.1:p.Arg3550=
XM_017010948.2:c.10201A=	XP_016866437.1:p.Arg3401=
XM_017010949.2:c.9052A=	XP_016866438.1:p.Arg3018=
XR_001743469.1:n.11188A=
XR_001744157.1:n.3145+6841T=
XR_926870.2:n.3145+6841T=
XR_926871.2:n.3013+6841T=
XR_926872.2:n.3145+6841T=
NM_138694.4:c.10912A= MANE Select	NP_619639.3:p.Arg3638=