Canonical Allele Identifier: CA1628469719

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627041C= , CM000668.2:g.51627041C=	GRCh38
NC_000006.11:g.51491839C= , CM000668.1:g.51491839C=	GRCh37
NC_000006.10:g.51599798C=	NCBI36
NG_008753.1:g.465585G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11741G= MANE Select	ENSP00000360158.3:p.Arg3914=
ENST00000371117.7:c.11741G=	ENSP00000360158.3:p.Arg3914=
NM_138694.3:c.11741G=	NP_619639.3:p.Arg3914=
XM_011514679.1:c.11741G=	XP_011512981.1:p.Arg3914=
XM_011514680.1:c.11741G=	XP_011512982.1:p.Arg3914=
XM_011514681.1:c.11612G=	XP_011512983.1:p.Arg3871=
XM_011514682.1:c.11603G=	XP_011512984.1:p.Arg3868=
XM_011514683.1:c.11099G=	XP_011512985.1:p.Arg3700=
XM_011514684.1:c.11030G=	XP_011512986.1:p.Arg3677=
XM_011514690.1:c.5816G=	XP_011512992.1:p.Arg1939=
XM_011514691.1:c.5816G=	XP_011512993.1:p.Arg1939=
XM_011514680.3:c.11741G=	XP_011512982.1:p.Arg3914=
XM_011514682.3:c.11603G=	XP_011512984.1:p.Arg3868=
XM_011514683.3:c.11099G=	XP_011512985.1:p.Arg3700=
XM_011514684.3:c.11030G=	XP_011512986.1:p.Arg3677=
XM_011514690.3:c.5816G=	XP_011512992.1:p.Arg1939=
XM_011514691.3:c.5816G=	XP_011512993.1:p.Arg1939=
XM_017010944.2:c.11741G=	XP_016866433.1:p.Arg3914=
XM_017010945.2:c.11666G=	XP_016866434.1:p.Arg3889=
XM_017010946.2:c.11546G=	XP_016866435.1:p.Arg3849=
XM_017010947.2:c.11477G=	XP_016866436.1:p.Arg3826=
XM_017010948.2:c.11030G=	XP_016866437.1:p.Arg3677=
XM_017010949.2:c.9881G=	XP_016866438.1:p.Arg3294=
NM_138694.4:c.11741G= MANE Select	NP_619639.3:p.Arg3914=