Canonical Allele Identifier: CA450410807

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51619132C>T , CM000668.2:g.51619132C>T	GRCh38
NC_000006.11:g.51483930C>T , CM000668.1:g.51483930C>T	GRCh37
NC_000006.10:g.51591889C>T	NCBI36
NG_008753.1:g.473494G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.12174G>A MANE Select	NP_619639.3:p.Glu4058=
ENST00000371117.8:c.12174G>A MANE Select	ENSP00000360158.3:p.Glu4058=
NM_138694.3:c.12174G>A	NP_619639.3:p.Glu4058=
ENST00000371117.7:c.12174G>A	ENSP00000360158.3:p.Glu4058=
XM_011514679.1:c.12174G>A	XP_011512981.1:p.Glu4058=
XM_011514680.1:c.12174G>A	XP_011512982.1:p.Glu4058=
XM_011514680.3:c.12174G>A	XP_011512982.1:p.Glu4058=
XM_011514681.1:c.12045G>A	XP_011512983.1:p.Glu4015=
XM_011514682.1:c.12036G>A	XP_011512984.1:p.Glu4012=
XM_011514682.3:c.12036G>A	XP_011512984.1:p.Glu4012=
XM_011514683.1:c.11532G>A	XP_011512985.1:p.Glu3844=
XM_011514683.3:c.11532G>A	XP_011512985.1:p.Glu3844=
XM_011514684.1:c.11463G>A	XP_011512986.1:p.Glu3821=
XM_011514684.3:c.11463G>A	XP_011512986.1:p.Glu3821=
XM_011514690.1:c.6249G>A	XP_011512992.1:p.Glu2083=
XM_011514690.3:c.6249G>A	XP_011512992.1:p.Glu2083=
XM_011514691.1:c.6249G>A	XP_011512993.1:p.Glu2083=
XM_011514691.3:c.6249G>A	XP_011512993.1:p.Glu2083=
XM_017010944.2:c.12174G>A	XP_016866433.1:p.Glu4058=
XM_017010945.2:c.12099G>A	XP_016866434.1:p.Glu4033=
XM_017010946.2:c.11979G>A	XP_016866435.1:p.Glu3993=
XM_017010947.2:c.11910G>A	XP_016866436.1:p.Glu3970=
XM_017010948.2:c.11463G>A	XP_016866437.1:p.Glu3821=
XM_017010949.2:c.10314G>A	XP_016866438.1:p.Glu3438=