Canonical Allele Identifier: CA1628439318

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659590T= , CM000668.2:g.51659590T=	GRCh38
NC_000006.11:g.51524388T= , CM000668.1:g.51524388T=	GRCh37
NC_000006.10:g.51632347T=	NCBI36
NG_008753.1:g.433036A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10536A= MANE Select	ENSP00000360158.3:p.Glu3512=
ENST00000371117.7:c.10536A=	ENSP00000360158.3:p.Glu3512=
NM_138694.3:c.10536A=	NP_619639.3:p.Glu3512=
XM_011514679.1:c.10536A=	XP_011512981.1:p.Glu3512=
XM_011514680.1:c.10536A=	XP_011512982.1:p.Glu3512=
XM_011514681.1:c.10407A=	XP_011512983.1:p.Glu3469=
XM_011514682.1:c.10398A=	XP_011512984.1:p.Glu3466=
XM_011514683.1:c.9894A=	XP_011512985.1:p.Glu3298=
XM_011514684.1:c.9825A=	XP_011512986.1:p.Glu3275=
XM_011514687.1:c.10157-10370A=	XP_011512989.1:n.10157-10370A=
XM_011514690.1:c.4611A=	XP_011512992.1:p.Glu1537=
XM_011514691.1:c.4611A=	XP_011512993.1:p.Glu1537=
XR_926870.1:n.535+7217T=
XR_926871.1:n.403+7217T=
XR_926872.1:n.535+7217T=
XM_011514680.3:c.10536A=	XP_011512982.1:p.Glu3512=
XM_011514682.3:c.10398A=	XP_011512984.1:p.Glu3466=
XM_011514683.3:c.9894A=	XP_011512985.1:p.Glu3298=
XM_011514684.3:c.9825A=	XP_011512986.1:p.Glu3275=
XM_011514690.3:c.4611A=	XP_011512992.1:p.Glu1537=
XM_011514691.3:c.4611A=	XP_011512993.1:p.Glu1537=
XM_017010944.2:c.10536A=	XP_016866433.1:p.Glu3512=
XM_017010945.2:c.10461A=	XP_016866434.1:p.Glu3487=
XM_017010946.2:c.10341A=	XP_016866435.1:p.Glu3447=
XM_017010947.2:c.10272A=	XP_016866436.1:p.Glu3424=
XM_017010948.2:c.9825A=	XP_016866437.1:p.Glu3275=
XM_017010949.2:c.8676A=	XP_016866438.1:p.Glu2892=
XR_001743469.1:n.10812A=
XR_001744157.1:n.3145+7217T=
XR_926870.2:n.3145+7217T=
XR_926871.2:n.3013+7217T=
XR_926872.2:n.3145+7217T=
NM_138694.4:c.10536A= MANE Select	NP_619639.3:p.Glu3512=