Canonical Allele Identifier: CA1628469634

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627020T= , CM000668.2:g.51627020T=	GRCh38
NC_000006.11:g.51491818T= , CM000668.1:g.51491818T=	GRCh37
NC_000006.10:g.51599777T=	NCBI36
NG_008753.1:g.465606A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11762A= MANE Select	ENSP00000360158.3:p.Lys3921=
ENST00000371117.7:c.11762A=	ENSP00000360158.3:p.Lys3921=
NM_138694.3:c.11762A=	NP_619639.3:p.Lys3921=
XM_011514679.1:c.11762A=	XP_011512981.1:p.Lys3921=
XM_011514680.1:c.11762A=	XP_011512982.1:p.Lys3921=
XM_011514681.1:c.11633A=	XP_011512983.1:p.Lys3878=
XM_011514682.1:c.11624A=	XP_011512984.1:p.Lys3875=
XM_011514683.1:c.11120A=	XP_011512985.1:p.Lys3707=
XM_011514684.1:c.11051A=	XP_011512986.1:p.Lys3684=
XM_011514690.1:c.5837A=	XP_011512992.1:p.Lys1946=
XM_011514691.1:c.5837A=	XP_011512993.1:p.Lys1946=
XM_011514680.3:c.11762A=	XP_011512982.1:p.Lys3921=
XM_011514682.3:c.11624A=	XP_011512984.1:p.Lys3875=
XM_011514683.3:c.11120A=	XP_011512985.1:p.Lys3707=
XM_011514684.3:c.11051A=	XP_011512986.1:p.Lys3684=
XM_011514690.3:c.5837A=	XP_011512992.1:p.Lys1946=
XM_011514691.3:c.5837A=	XP_011512993.1:p.Lys1946=
XM_017010944.2:c.11762A=	XP_016866433.1:p.Lys3921=
XM_017010945.2:c.11687A=	XP_016866434.1:p.Lys3896=
XM_017010946.2:c.11567A=	XP_016866435.1:p.Lys3856=
XM_017010947.2:c.11498A=	XP_016866436.1:p.Lys3833=
XM_017010948.2:c.11051A=	XP_016866437.1:p.Lys3684=
XM_017010949.2:c.9902A=	XP_016866438.1:p.Lys3301=
NM_138694.4:c.11762A= MANE Select	NP_619639.3:p.Lys3921=