Canonical Allele Identifier: CA1628439804

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659806G= , CM000668.2:g.51659806G=	GRCh38
NC_000006.11:g.51524604G= , CM000668.1:g.51524604G=	GRCh37
NC_000006.10:g.51632563G=	NCBI36
NG_008753.1:g.432820C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10320C= MANE Select	ENSP00000360158.3:p.Val3440=
ENST00000371117.7:c.10320C=	ENSP00000360158.3:p.Val3440=
NM_138694.3:c.10320C=	NP_619639.3:p.Val3440=
XM_011514679.1:c.10320C=	XP_011512981.1:p.Val3440=
XM_011514680.1:c.10320C=	XP_011512982.1:p.Val3440=
XM_011514681.1:c.10191C=	XP_011512983.1:p.Val3397=
XM_011514682.1:c.10182C=	XP_011512984.1:p.Val3394=
XM_011514683.1:c.9678C=	XP_011512985.1:p.Val3226=
XM_011514684.1:c.9609C=	XP_011512986.1:p.Val3203=
XM_011514687.1:c.10157-10586C=	XP_011512989.1:n.10157-10586C=
XM_011514690.1:c.4395C=	XP_011512992.1:p.Val1465=
XM_011514691.1:c.4395C=	XP_011512993.1:p.Val1465=
XR_926870.1:n.535+7433G=
XR_926871.1:n.403+7433G=
XR_926872.1:n.535+7433G=
XM_011514680.3:c.10320C=	XP_011512982.1:p.Val3440=
XM_011514682.3:c.10182C=	XP_011512984.1:p.Val3394=
XM_011514683.3:c.9678C=	XP_011512985.1:p.Val3226=
XM_011514684.3:c.9609C=	XP_011512986.1:p.Val3203=
XM_011514690.3:c.4395C=	XP_011512992.1:p.Val1465=
XM_011514691.3:c.4395C=	XP_011512993.1:p.Val1465=
XM_017010944.2:c.10320C=	XP_016866433.1:p.Val3440=
XM_017010945.2:c.10245C=	XP_016866434.1:p.Val3415=
XM_017010946.2:c.10125C=	XP_016866435.1:p.Val3375=
XM_017010947.2:c.10056C=	XP_016866436.1:p.Val3352=
XM_017010948.2:c.9609C=	XP_016866437.1:p.Val3203=
XM_017010949.2:c.8460C=	XP_016866438.1:p.Val2820=
XR_001743469.1:n.10596C=
XR_001744157.1:n.3145+7433G=
XR_926870.2:n.3145+7433G=
XR_926871.2:n.3013+7433G=
XR_926872.2:n.3145+7433G=
NM_138694.4:c.10320C= MANE Select	NP_619639.3:p.Val3440=