Canonical Allele Identifier: CA3850670

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51619436C>T , CM000668.2:g.51619436C>T	GRCh38
NC_000006.11:g.51484234C>T , CM000668.1:g.51484234C>T	GRCh37
NC_000006.10:g.51592193C>T	NCBI36
NG_008753.1:g.473190G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.11870G>A MANE Select	NP_619639.3:p.Arg3957His
ENST00000371117.8:c.11870G>A MANE Select	ENSP00000360158.3:p.Arg3957His
NM_138694.3:c.11870G>A	NP_619639.3:p.Arg3957His
ENST00000371117.7:c.11870G>A	ENSP00000360158.3:p.Arg3957His
XM_011514679.1:c.11870G>A	XP_011512981.1:p.Arg3957His
XM_011514680.1:c.11870G>A	XP_011512982.1:p.Arg3957His
XM_011514680.3:c.11870G>A	XP_011512982.1:p.Arg3957His
XM_011514681.1:c.11741G>A	XP_011512983.1:p.Arg3914His
XM_011514682.1:c.11732G>A	XP_011512984.1:p.Arg3911His
XM_011514682.3:c.11732G>A	XP_011512984.1:p.Arg3911His
XM_011514683.1:c.11228G>A	XP_011512985.1:p.Arg3743His
XM_011514683.3:c.11228G>A	XP_011512985.1:p.Arg3743His
XM_011514684.1:c.11159G>A	XP_011512986.1:p.Arg3720His
XM_011514684.3:c.11159G>A	XP_011512986.1:p.Arg3720His
XM_011514690.1:c.5945G>A	XP_011512992.1:p.Arg1982His
XM_011514690.3:c.5945G>A	XP_011512992.1:p.Arg1982His
XM_011514691.1:c.5945G>A	XP_011512993.1:p.Arg1982His
XM_011514691.3:c.5945G>A	XP_011512993.1:p.Arg1982His
XM_017010944.2:c.11870G>A	XP_016866433.1:p.Arg3957His
XM_017010945.2:c.11795G>A	XP_016866434.1:p.Arg3932His
XM_017010946.2:c.11675G>A	XP_016866435.1:p.Arg3892His
XM_017010947.2:c.11606G>A	XP_016866436.1:p.Arg3869His
XM_017010948.2:c.11159G>A	XP_016866437.1:p.Arg3720His
XM_017010949.2:c.10010G>A	XP_016866438.1:p.Arg3337His