Canonical Allele Identifier: CA1628439358

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659604C= , CM000668.2:g.51659604C=	GRCh38
NC_000006.11:g.51524402C= , CM000668.1:g.51524402C=	GRCh37
NC_000006.10:g.51632361C=	NCBI36
NG_008753.1:g.433022G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10522G= MANE Select	ENSP00000360158.3:p.Val3508=
ENST00000371117.7:c.10522G=	ENSP00000360158.3:p.Val3508=
NM_138694.3:c.10522G=	NP_619639.3:p.Val3508=
XM_011514679.1:c.10522G=	XP_011512981.1:p.Val3508=
XM_011514680.1:c.10522G=	XP_011512982.1:p.Val3508=
XM_011514681.1:c.10393G=	XP_011512983.1:p.Val3465=
XM_011514682.1:c.10384G=	XP_011512984.1:p.Val3462=
XM_011514683.1:c.9880G=	XP_011512985.1:p.Val3294=
XM_011514684.1:c.9811G=	XP_011512986.1:p.Val3271=
XM_011514687.1:c.10157-10384G=	XP_011512989.1:n.10157-10384G=
XM_011514690.1:c.4597G=	XP_011512992.1:p.Val1533=
XM_011514691.1:c.4597G=	XP_011512993.1:p.Val1533=
XR_926870.1:n.535+7231C=
XR_926871.1:n.403+7231C=
XR_926872.1:n.535+7231C=
XM_011514680.3:c.10522G=	XP_011512982.1:p.Val3508=
XM_011514682.3:c.10384G=	XP_011512984.1:p.Val3462=
XM_011514683.3:c.9880G=	XP_011512985.1:p.Val3294=
XM_011514684.3:c.9811G=	XP_011512986.1:p.Val3271=
XM_011514690.3:c.4597G=	XP_011512992.1:p.Val1533=
XM_011514691.3:c.4597G=	XP_011512993.1:p.Val1533=
XM_017010944.2:c.10522G=	XP_016866433.1:p.Val3508=
XM_017010945.2:c.10447G=	XP_016866434.1:p.Val3483=
XM_017010946.2:c.10327G=	XP_016866435.1:p.Val3443=
XM_017010947.2:c.10258G=	XP_016866436.1:p.Val3420=
XM_017010948.2:c.9811G=	XP_016866437.1:p.Val3271=
XM_017010949.2:c.8662G=	XP_016866438.1:p.Val2888=
XR_001743469.1:n.10798G=
XR_001744157.1:n.3145+7231C=
XR_926870.2:n.3145+7231C=
XR_926871.2:n.3013+7231C=
XR_926872.2:n.3145+7231C=
NM_138694.4:c.10522G= MANE Select	NP_619639.3:p.Val3508=