Canonical Allele Identifier: CA1628438733

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659259G= , CM000668.2:g.51659259G=	GRCh38
NC_000006.11:g.51524057G= , CM000668.1:g.51524057G=	GRCh37
NC_000006.10:g.51632016G=	NCBI36
NG_008753.1:g.433367C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10867C= MANE Select	ENSP00000360158.3:p.Pro3623=
ENST00000371117.7:c.10867C=	ENSP00000360158.3:p.Pro3623=
NM_138694.3:c.10867C=	NP_619639.3:p.Pro3623=
XM_011514679.1:c.10867C=	XP_011512981.1:p.Pro3623=
XM_011514680.1:c.10867C=	XP_011512982.1:p.Pro3623=
XM_011514681.1:c.10738C=	XP_011512983.1:p.Pro3580=
XM_011514682.1:c.10729C=	XP_011512984.1:p.Pro3577=
XM_011514683.1:c.10225C=	XP_011512985.1:p.Pro3409=
XM_011514684.1:c.10156C=	XP_011512986.1:p.Pro3386=
XM_011514687.1:c.10157-10039C=	XP_011512989.1:n.10157-10039C=
XM_011514690.1:c.4942C=	XP_011512992.1:p.Pro1648=
XM_011514691.1:c.4942C=	XP_011512993.1:p.Pro1648=
XR_926870.1:n.535+6886G=
XR_926871.1:n.403+6886G=
XR_926872.1:n.535+6886G=
XM_011514680.3:c.10867C=	XP_011512982.1:p.Pro3623=
XM_011514682.3:c.10729C=	XP_011512984.1:p.Pro3577=
XM_011514683.3:c.10225C=	XP_011512985.1:p.Pro3409=
XM_011514684.3:c.10156C=	XP_011512986.1:p.Pro3386=
XM_011514690.3:c.4942C=	XP_011512992.1:p.Pro1648=
XM_011514691.3:c.4942C=	XP_011512993.1:p.Pro1648=
XM_017010944.2:c.10867C=	XP_016866433.1:p.Pro3623=
XM_017010945.2:c.10792C=	XP_016866434.1:p.Pro3598=
XM_017010946.2:c.10672C=	XP_016866435.1:p.Pro3558=
XM_017010947.2:c.10603C=	XP_016866436.1:p.Pro3535=
XM_017010948.2:c.10156C=	XP_016866437.1:p.Pro3386=
XM_017010949.2:c.9007C=	XP_016866438.1:p.Pro3003=
XR_001743469.1:n.11143C=
XR_001744157.1:n.3145+6886G=
XR_926870.2:n.3145+6886G=
XR_926871.2:n.3013+6886G=
XR_926872.2:n.3145+6886G=
NM_138694.4:c.10867C= MANE Select	NP_619639.3:p.Pro3623=