Canonical Allele Identifier: CA1628469805

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627061G= , CM000668.2:g.51627061G=	GRCh38
NC_000006.11:g.51491859G= , CM000668.1:g.51491859G=	GRCh37
NC_000006.10:g.51599818G=	NCBI36
NG_008753.1:g.465565C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11721C= MANE Select	ENSP00000360158.3:p.Ile3907=
ENST00000371117.7:c.11721C=	ENSP00000360158.3:p.Ile3907=
NM_138694.3:c.11721C=	NP_619639.3:p.Ile3907=
XM_011514679.1:c.11721C=	XP_011512981.1:p.Ile3907=
XM_011514680.1:c.11721C=	XP_011512982.1:p.Ile3907=
XM_011514681.1:c.11592C=	XP_011512983.1:p.Ile3864=
XM_011514682.1:c.11583C=	XP_011512984.1:p.Ile3861=
XM_011514683.1:c.11079C=	XP_011512985.1:p.Ile3693=
XM_011514684.1:c.11010C=	XP_011512986.1:p.Ile3670=
XM_011514690.1:c.5796C=	XP_011512992.1:p.Ile1932=
XM_011514691.1:c.5796C=	XP_011512993.1:p.Ile1932=
XM_011514680.3:c.11721C=	XP_011512982.1:p.Ile3907=
XM_011514682.3:c.11583C=	XP_011512984.1:p.Ile3861=
XM_011514683.3:c.11079C=	XP_011512985.1:p.Ile3693=
XM_011514684.3:c.11010C=	XP_011512986.1:p.Ile3670=
XM_011514690.3:c.5796C=	XP_011512992.1:p.Ile1932=
XM_011514691.3:c.5796C=	XP_011512993.1:p.Ile1932=
XM_017010944.2:c.11721C=	XP_016866433.1:p.Ile3907=
XM_017010945.2:c.11646C=	XP_016866434.1:p.Ile3882=
XM_017010946.2:c.11526C=	XP_016866435.1:p.Ile3842=
XM_017010947.2:c.11457C=	XP_016866436.1:p.Ile3819=
XM_017010948.2:c.11010C=	XP_016866437.1:p.Ile3670=
XM_017010949.2:c.9861C=	XP_016866438.1:p.Ile3287=
NM_138694.4:c.11721C= MANE Select	NP_619639.3:p.Ile3907=