Canonical Allele Identifier: CA1628439768

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659795A= , CM000668.2:g.51659795A=	GRCh38
NC_000006.11:g.51524593A= , CM000668.1:g.51524593A=	GRCh37
NC_000006.10:g.51632552A=	NCBI36
NG_008753.1:g.432831T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10331T= MANE Select	ENSP00000360158.3:p.Val3444=
ENST00000371117.7:c.10331T=	ENSP00000360158.3:p.Val3444=
NM_138694.3:c.10331T=	NP_619639.3:p.Val3444=
XM_011514679.1:c.10331T=	XP_011512981.1:p.Val3444=
XM_011514680.1:c.10331T=	XP_011512982.1:p.Val3444=
XM_011514681.1:c.10202T=	XP_011512983.1:p.Val3401=
XM_011514682.1:c.10193T=	XP_011512984.1:p.Val3398=
XM_011514683.1:c.9689T=	XP_011512985.1:p.Val3230=
XM_011514684.1:c.9620T=	XP_011512986.1:p.Val3207=
XM_011514687.1:c.10157-10575T=	XP_011512989.1:n.10157-10575T=
XM_011514690.1:c.4406T=	XP_011512992.1:p.Val1469=
XM_011514691.1:c.4406T=	XP_011512993.1:p.Val1469=
XR_926870.1:n.535+7422A=
XR_926871.1:n.403+7422A=
XR_926872.1:n.535+7422A=
XM_011514680.3:c.10331T=	XP_011512982.1:p.Val3444=
XM_011514682.3:c.10193T=	XP_011512984.1:p.Val3398=
XM_011514683.3:c.9689T=	XP_011512985.1:p.Val3230=
XM_011514684.3:c.9620T=	XP_011512986.1:p.Val3207=
XM_011514690.3:c.4406T=	XP_011512992.1:p.Val1469=
XM_011514691.3:c.4406T=	XP_011512993.1:p.Val1469=
XM_017010944.2:c.10331T=	XP_016866433.1:p.Val3444=
XM_017010945.2:c.10256T=	XP_016866434.1:p.Val3419=
XM_017010946.2:c.10136T=	XP_016866435.1:p.Val3379=
XM_017010947.2:c.10067T=	XP_016866436.1:p.Val3356=
XM_017010948.2:c.9620T=	XP_016866437.1:p.Val3207=
XM_017010949.2:c.8471T=	XP_016866438.1:p.Val2824=
XR_001743469.1:n.10607T=
XR_001744157.1:n.3145+7422A=
XR_926870.2:n.3145+7422A=
XR_926871.2:n.3013+7422A=
XR_926872.2:n.3145+7422A=
NM_138694.4:c.10331T= MANE Select	NP_619639.3:p.Val3444=