Canonical Allele Identifier: CA149472

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659605G>A , CM000668.2:g.51659605G>A	GRCh38
NC_000006.11:g.51524403G>A , CM000668.1:g.51524403G>A	GRCh37
NC_000006.10:g.51632362G>A	NCBI36
NG_008753.1:g.433021C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10521C>T MANE Select	ENSP00000360158.3:p.His3507=
ENST00000371117.7:c.10521C>T	ENSP00000360158.3:p.His3507=
NM_138694.3:c.10521C>T	NP_619639.3:p.His3507=
XM_011514679.1:c.10521C>T	XP_011512981.1:p.His3507=
XM_011514680.1:c.10521C>T	XP_011512982.1:p.His3507=
XM_011514681.1:c.10392C>T	XP_011512983.1:p.His3464=
XM_011514682.1:c.10383C>T	XP_011512984.1:p.His3461=
XM_011514683.1:c.9879C>T	XP_011512985.1:p.His3293=
XM_011514684.1:c.9810C>T	XP_011512986.1:p.His3270=
XM_011514687.1:c.10157-10385C>T	XP_011512989.1:n.10157-10385C>T
XM_011514690.1:c.4596C>T	XP_011512992.1:p.His1532=
XM_011514691.1:c.4596C>T	XP_011512993.1:p.His1532=
XR_926870.1:n.535+7232G>A
XR_926871.1:n.403+7232G>A
XR_926872.1:n.535+7232G>A
XM_011514680.3:c.10521C>T	XP_011512982.1:p.His3507=
XM_011514682.3:c.10383C>T	XP_011512984.1:p.His3461=
XM_011514683.3:c.9879C>T	XP_011512985.1:p.His3293=
XM_011514684.3:c.9810C>T	XP_011512986.1:p.His3270=
XM_011514690.3:c.4596C>T	XP_011512992.1:p.His1532=
XM_011514691.3:c.4596C>T	XP_011512993.1:p.His1532=
XM_017010944.2:c.10521C>T	XP_016866433.1:p.His3507=
XM_017010945.2:c.10446C>T	XP_016866434.1:p.His3482=
XM_017010946.2:c.10326C>T	XP_016866435.1:p.His3442=
XM_017010947.2:c.10257C>T	XP_016866436.1:p.His3419=
XM_017010948.2:c.9810C>T	XP_016866437.1:p.His3270=
XM_017010949.2:c.8661C>T	XP_016866438.1:p.His2887=
XR_001743469.1:n.10797C>T
XR_001744157.1:n.3145+7232G>A
XR_926870.2:n.3145+7232G>A
XR_926871.2:n.3013+7232G>A
XR_926872.2:n.3145+7232G>A
NM_138694.4:c.10521C>T MANE Select	NP_619639.3:p.His3507=