Canonical Allele Identifier: CA1628537211

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51801833T= , CM000668.2:g.51801833T=	GRCh38
NC_000006.11:g.51666631T= , CM000668.1:g.51666631T=	GRCh37
NC_000006.10:g.51774590T=	NCBI36
NG_008753.1:g.290793A=

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.8303-10460A= MANE Select	NP_619639.3:n.8303-10460A=
ENST00000371117.8:c.8303-10460A= MANE Select	ENSP00000360158.3:n.8303-10460A=
NM_138694.3:c.8303-10460A=	NP_619639.3:n.8303-10460A=
NM_170724.2:c.8303-10460A=	NP_733842.2:n.8303-10460A=
NM_170724.3:c.8303-10460A=	NP_733842.2:n.8303-10460A=
ENST00000340994.4:c.8303-10460A=	ENSP00000341097.4:n.8303-10460A=
ENST00000371117.7:c.8303-10460A=	ENSP00000360158.3:n.8303-10460A=
XM_011514679.1:c.8303-10460A=	XP_011512981.1:n.8303-10460A=
XM_011514680.1:c.8303-10460A=	XP_011512982.1:n.8303-10460A=
XM_011514680.3:c.8303-10460A=	XP_011512982.1:n.8303-10460A=
XM_011514681.1:c.8174-10460A=	XP_011512983.1:n.8174-10460A=
XM_011514682.1:c.8303-25912A=	XP_011512984.1:n.8303-25912A=
XM_011514682.3:c.8303-25912A=	XP_011512984.1:n.8303-25912A=
XM_011514683.1:c.7661-10460A=	XP_011512985.1:n.7661-10460A=
XM_011514683.3:c.7661-10460A=	XP_011512985.1:n.7661-10460A=
XM_011514684.1:c.7592-10460A=	XP_011512986.1:n.7592-10460A=
XM_011514684.3:c.7592-10460A=	XP_011512986.1:n.7592-10460A=
XM_011514685.1:c.8303-10460A=	XP_011512987.1:n.8303-10460A=
XM_011514686.1:c.8303-10460A=	XP_011512988.1:n.8303-10460A=
XM_011514686.2:c.8303-10460A=	XP_011512988.1:n.8303-10460A=
XM_011514687.1:c.8303-10460A=	XP_011512989.1:n.8303-10460A=
XM_011514688.1:c.8303-10460A=	XP_011512990.1:n.8303-10460A=
XM_011514688.2:c.8303-10460A=	XP_011512990.1:n.8303-10460A=
XM_011514689.1:c.*9-10460A=	XP_011512991.1:n.*9-10460A=
XM_011514690.1:c.2378-10460A=	XP_011512992.1:n.2378-10460A=
XM_011514690.3:c.2378-10460A=	XP_011512992.1:n.2378-10460A=
XM_011514691.1:c.2378-10460A=	XP_011512993.1:n.2378-10460A=
XM_011514691.3:c.2378-10460A=	XP_011512993.1:n.2378-10460A=
XM_017010944.2:c.8303-10460A=	XP_016866433.1:n.8303-10460A=
XM_017010945.2:c.8228-10460A=	XP_016866434.1:n.8228-10460A=
XM_017010946.2:c.8108-10460A=	XP_016866435.1:n.8108-10460A=
XM_017010947.2:c.8039-10460A=	XP_016866436.1:n.8039-10460A=
XM_017010948.2:c.7592-10460A=	XP_016866437.1:n.7592-10460A=
XM_017010949.2:c.6443-10460A=	XP_016866438.1:n.6443-10460A=
XM_017010950.1:c.8303-10460A=	XP_016866439.1:n.8303-10460A=
XM_017010951.1:c.8303-10460A=	XP_016866440.1:n.8303-10460A=
XR_001743469.1:n.8579-10460A=