Canonical Allele Identifier: CA1628438610

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659213C= , CM000668.2:g.51659213C=	GRCh38
NC_000006.11:g.51524011C= , CM000668.1:g.51524011C=	GRCh37
NC_000006.10:g.51631970C=	NCBI36
NG_008753.1:g.433413G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10913G= MANE Select	ENSP00000360158.3:p.Arg3638=
ENST00000371117.7:c.10913G=	ENSP00000360158.3:p.Arg3638=
NM_138694.3:c.10913G=	NP_619639.3:p.Arg3638=
XM_011514679.1:c.10913G=	XP_011512981.1:p.Arg3638=
XM_011514680.1:c.10913G=	XP_011512982.1:p.Arg3638=
XM_011514681.1:c.10784G=	XP_011512983.1:p.Arg3595=
XM_011514682.1:c.10775G=	XP_011512984.1:p.Arg3592=
XM_011514683.1:c.10271G=	XP_011512985.1:p.Arg3424=
XM_011514684.1:c.10202G=	XP_011512986.1:p.Arg3401=
XM_011514687.1:c.10157-9993G=	XP_011512989.1:n.10157-9993G=
XM_011514690.1:c.4988G=	XP_011512992.1:p.Arg1663=
XM_011514691.1:c.4988G=	XP_011512993.1:p.Arg1663=
XR_926870.1:n.535+6840C=
XR_926871.1:n.403+6840C=
XR_926872.1:n.535+6840C=
XM_011514680.3:c.10913G=	XP_011512982.1:p.Arg3638=
XM_011514682.3:c.10775G=	XP_011512984.1:p.Arg3592=
XM_011514683.3:c.10271G=	XP_011512985.1:p.Arg3424=
XM_011514684.3:c.10202G=	XP_011512986.1:p.Arg3401=
XM_011514690.3:c.4988G=	XP_011512992.1:p.Arg1663=
XM_011514691.3:c.4988G=	XP_011512993.1:p.Arg1663=
XM_017010944.2:c.10913G=	XP_016866433.1:p.Arg3638=
XM_017010945.2:c.10838G=	XP_016866434.1:p.Arg3613=
XM_017010946.2:c.10718G=	XP_016866435.1:p.Arg3573=
XM_017010947.2:c.10649G=	XP_016866436.1:p.Arg3550=
XM_017010948.2:c.10202G=	XP_016866437.1:p.Arg3401=
XM_017010949.2:c.9053G=	XP_016866438.1:p.Arg3018=
XR_001743469.1:n.11189G=
XR_001744157.1:n.3145+6840C=
XR_926870.2:n.3145+6840C=
XR_926871.2:n.3013+6840C=
XR_926872.2:n.3145+6840C=
NM_138694.4:c.10913G= MANE Select	NP_619639.3:p.Arg3638=