Canonical Allele Identifier: CA1628438641

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659221A= , CM000668.2:g.51659221A=	GRCh38
NC_000006.11:g.51524019A= , CM000668.1:g.51524019A=	GRCh37
NC_000006.10:g.51631978A=	NCBI36
NG_008753.1:g.433405T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10905T= MANE Select	ENSP00000360158.3:p.Gly3635=
ENST00000371117.7:c.10905T=	ENSP00000360158.3:p.Gly3635=
NM_138694.3:c.10905T=	NP_619639.3:p.Gly3635=
XM_011514679.1:c.10905T=	XP_011512981.1:p.Gly3635=
XM_011514680.1:c.10905T=	XP_011512982.1:p.Gly3635=
XM_011514681.1:c.10776T=	XP_011512983.1:p.Gly3592=
XM_011514682.1:c.10767T=	XP_011512984.1:p.Gly3589=
XM_011514683.1:c.10263T=	XP_011512985.1:p.Gly3421=
XM_011514684.1:c.10194T=	XP_011512986.1:p.Gly3398=
XM_011514687.1:c.10157-10001T=	XP_011512989.1:n.10157-10001T=
XM_011514690.1:c.4980T=	XP_011512992.1:p.Gly1660=
XM_011514691.1:c.4980T=	XP_011512993.1:p.Gly1660=
XR_926870.1:n.535+6848A=
XR_926871.1:n.403+6848A=
XR_926872.1:n.535+6848A=
XM_011514680.3:c.10905T=	XP_011512982.1:p.Gly3635=
XM_011514682.3:c.10767T=	XP_011512984.1:p.Gly3589=
XM_011514683.3:c.10263T=	XP_011512985.1:p.Gly3421=
XM_011514684.3:c.10194T=	XP_011512986.1:p.Gly3398=
XM_011514690.3:c.4980T=	XP_011512992.1:p.Gly1660=
XM_011514691.3:c.4980T=	XP_011512993.1:p.Gly1660=
XM_017010944.2:c.10905T=	XP_016866433.1:p.Gly3635=
XM_017010945.2:c.10830T=	XP_016866434.1:p.Gly3610=
XM_017010946.2:c.10710T=	XP_016866435.1:p.Gly3570=
XM_017010947.2:c.10641T=	XP_016866436.1:p.Gly3547=
XM_017010948.2:c.10194T=	XP_016866437.1:p.Gly3398=
XM_017010949.2:c.9045T=	XP_016866438.1:p.Gly3015=
XR_001743469.1:n.11181T=
XR_001744157.1:n.3145+6848A=
XR_926870.2:n.3145+6848A=
XR_926871.2:n.3013+6848A=
XR_926872.2:n.3145+6848A=
NM_138694.4:c.10905T= MANE Select	NP_619639.3:p.Gly3635=