Canonical Allele Identifier: CA1628439279

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659575G= , CM000668.2:g.51659575G=	GRCh38
NC_000006.11:g.51524373G= , CM000668.1:g.51524373G=	GRCh37
NC_000006.10:g.51632332G=	NCBI36
NG_008753.1:g.433051C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10551C= MANE Select	ENSP00000360158.3:p.Pro3517=
ENST00000371117.7:c.10551C=	ENSP00000360158.3:p.Pro3517=
NM_138694.3:c.10551C=	NP_619639.3:p.Pro3517=
XM_011514679.1:c.10551C=	XP_011512981.1:p.Pro3517=
XM_011514680.1:c.10551C=	XP_011512982.1:p.Pro3517=
XM_011514681.1:c.10422C=	XP_011512983.1:p.Pro3474=
XM_011514682.1:c.10413C=	XP_011512984.1:p.Pro3471=
XM_011514683.1:c.9909C=	XP_011512985.1:p.Pro3303=
XM_011514684.1:c.9840C=	XP_011512986.1:p.Pro3280=
XM_011514687.1:c.10157-10355C=	XP_011512989.1:n.10157-10355C=
XM_011514690.1:c.4626C=	XP_011512992.1:p.Pro1542=
XM_011514691.1:c.4626C=	XP_011512993.1:p.Pro1542=
XR_926870.1:n.535+7202G=
XR_926871.1:n.403+7202G=
XR_926872.1:n.535+7202G=
XM_011514680.3:c.10551C=	XP_011512982.1:p.Pro3517=
XM_011514682.3:c.10413C=	XP_011512984.1:p.Pro3471=
XM_011514683.3:c.9909C=	XP_011512985.1:p.Pro3303=
XM_011514684.3:c.9840C=	XP_011512986.1:p.Pro3280=
XM_011514690.3:c.4626C=	XP_011512992.1:p.Pro1542=
XM_011514691.3:c.4626C=	XP_011512993.1:p.Pro1542=
XM_017010944.2:c.10551C=	XP_016866433.1:p.Pro3517=
XM_017010945.2:c.10476C=	XP_016866434.1:p.Pro3492=
XM_017010946.2:c.10356C=	XP_016866435.1:p.Pro3452=
XM_017010947.2:c.10287C=	XP_016866436.1:p.Pro3429=
XM_017010948.2:c.9840C=	XP_016866437.1:p.Pro3280=
XM_017010949.2:c.8691C=	XP_016866438.1:p.Pro2897=
XR_001743469.1:n.10827C=
XR_001744157.1:n.3145+7202G=
XR_926870.2:n.3145+7202G=
XR_926871.2:n.3013+7202G=
XR_926872.2:n.3145+7202G=
NM_138694.4:c.10551C= MANE Select	NP_619639.3:p.Pro3517=