Canonical Allele Identifier: CA1628439850

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659828A= , CM000668.2:g.51659828A=	GRCh38
NC_000006.11:g.51524626A= , CM000668.1:g.51524626A=	GRCh37
NC_000006.10:g.51632585A=	NCBI36
NG_008753.1:g.432798T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10298T= MANE Select	ENSP00000360158.3:p.Val3433=
ENST00000371117.7:c.10298T=	ENSP00000360158.3:p.Val3433=
NM_138694.3:c.10298T=	NP_619639.3:p.Val3433=
XM_011514679.1:c.10298T=	XP_011512981.1:p.Val3433=
XM_011514680.1:c.10298T=	XP_011512982.1:p.Val3433=
XM_011514681.1:c.10169T=	XP_011512983.1:p.Val3390=
XM_011514682.1:c.10160T=	XP_011512984.1:p.Val3387=
XM_011514683.1:c.9656T=	XP_011512985.1:p.Val3219=
XM_011514684.1:c.9587T=	XP_011512986.1:p.Val3196=
XM_011514687.1:c.10157-10608T=	XP_011512989.1:n.10157-10608T=
XM_011514690.1:c.4373T=	XP_011512992.1:p.Val1458=
XM_011514691.1:c.4373T=	XP_011512993.1:p.Val1458=
XR_926870.1:n.535+7455A=
XR_926871.1:n.403+7455A=
XR_926872.1:n.535+7455A=
XM_011514680.3:c.10298T=	XP_011512982.1:p.Val3433=
XM_011514682.3:c.10160T=	XP_011512984.1:p.Val3387=
XM_011514683.3:c.9656T=	XP_011512985.1:p.Val3219=
XM_011514684.3:c.9587T=	XP_011512986.1:p.Val3196=
XM_011514690.3:c.4373T=	XP_011512992.1:p.Val1458=
XM_011514691.3:c.4373T=	XP_011512993.1:p.Val1458=
XM_017010944.2:c.10298T=	XP_016866433.1:p.Val3433=
XM_017010945.2:c.10223T=	XP_016866434.1:p.Val3408=
XM_017010946.2:c.10103T=	XP_016866435.1:p.Val3368=
XM_017010947.2:c.10034T=	XP_016866436.1:p.Val3345=
XM_017010948.2:c.9587T=	XP_016866437.1:p.Val3196=
XM_017010949.2:c.8438T=	XP_016866438.1:p.Val2813=
XR_001743469.1:n.10574T=
XR_001744157.1:n.3145+7455A=
XR_926870.2:n.3145+7455A=
XR_926871.2:n.3013+7455A=
XR_926872.2:n.3145+7455A=
NM_138694.4:c.10298T= MANE Select	NP_619639.3:p.Val3433=