Canonical Allele Identifier: CA1628440058

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659951T= , CM000668.2:g.51659951T=	GRCh38
NC_000006.11:g.51524749T= , CM000668.1:g.51524749T=	GRCh37
NC_000006.10:g.51632708T=	NCBI36
NG_008753.1:g.432675A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10175A= MANE Select	ENSP00000360158.3:p.Gln3392=
ENST00000371117.7:c.10175A=	ENSP00000360158.3:p.Gln3392=
NM_138694.3:c.10175A=	NP_619639.3:p.Gln3392=
XM_011514679.1:c.10175A=	XP_011512981.1:p.Gln3392=
XM_011514680.1:c.10175A=	XP_011512982.1:p.Gln3392=
XM_011514681.1:c.10046A=	XP_011512983.1:p.Gln3349=
XM_011514682.1:c.10037A=	XP_011512984.1:p.Gln3346=
XM_011514683.1:c.9533A=	XP_011512985.1:p.Gln3178=
XM_011514684.1:c.9464A=	XP_011512986.1:p.Gln3155=
XM_011514687.1:c.10157-10731A=	XP_011512989.1:n.10157-10731A=
XM_011514690.1:c.4250A=	XP_011512992.1:p.Gln1417=
XM_011514691.1:c.4250A=	XP_011512993.1:p.Gln1417=
XR_926870.1:n.535+7578T=
XR_926871.1:n.403+7578T=
XR_926872.1:n.535+7578T=
XM_011514680.3:c.10175A=	XP_011512982.1:p.Gln3392=
XM_011514682.3:c.10037A=	XP_011512984.1:p.Gln3346=
XM_011514683.3:c.9533A=	XP_011512985.1:p.Gln3178=
XM_011514684.3:c.9464A=	XP_011512986.1:p.Gln3155=
XM_011514690.3:c.4250A=	XP_011512992.1:p.Gln1417=
XM_011514691.3:c.4250A=	XP_011512993.1:p.Gln1417=
XM_017010944.2:c.10175A=	XP_016866433.1:p.Gln3392=
XM_017010945.2:c.10100A=	XP_016866434.1:p.Gln3367=
XM_017010946.2:c.9980A=	XP_016866435.1:p.Gln3327=
XM_017010947.2:c.9911A=	XP_016866436.1:p.Gln3304=
XM_017010948.2:c.9464A=	XP_016866437.1:p.Gln3155=
XM_017010949.2:c.8315A=	XP_016866438.1:p.Gln2772=
XR_001743469.1:n.10451A=
XR_001744157.1:n.3145+7578T=
XR_926870.2:n.3145+7578T=
XR_926871.2:n.3013+7578T=
XR_926872.2:n.3145+7578T=
NM_138694.4:c.10175A= MANE Select	NP_619639.3:p.Gln3392=