Canonical Allele Identifier: CA364422037

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51638952G>T , CM000668.2:g.51638952G>T	GRCh38
NC_000006.11:g.51503750G>T , CM000668.1:g.51503750G>T	GRCh37
NC_000006.10:g.51611709G>T	NCBI36
NG_008753.1:g.453674C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.11403C>A MANE Select	NP_619639.3:p.Cys3801Ter
ENST00000371117.8:c.11403C>A MANE Select	ENSP00000360158.3:p.Cys3801Ter
NM_138694.3:c.11403C>A	NP_619639.3:p.Cys3801Ter
ENST00000371117.7:c.11403C>A	ENSP00000360158.3:p.Cys3801Ter
XM_011514679.1:c.11403C>A	XP_011512981.1:p.Cys3801Ter
XM_011514680.1:c.11403C>A	XP_011512982.1:p.Cys3801Ter
XM_011514680.3:c.11403C>A	XP_011512982.1:p.Cys3801Ter
XM_011514681.1:c.11274C>A	XP_011512983.1:p.Cys3758Ter
XM_011514682.1:c.11265C>A	XP_011512984.1:p.Cys3755Ter
XM_011514682.3:c.11265C>A	XP_011512984.1:p.Cys3755Ter
XM_011514683.1:c.10761C>A	XP_011512985.1:p.Cys3587Ter
XM_011514683.3:c.10761C>A	XP_011512985.1:p.Cys3587Ter
XM_011514684.1:c.10692C>A	XP_011512986.1:p.Cys3564Ter
XM_011514684.3:c.10692C>A	XP_011512986.1:p.Cys3564Ter
XM_011514690.1:c.5478C>A	XP_011512992.1:p.Cys1826Ter
XM_011514690.3:c.5478C>A	XP_011512992.1:p.Cys1826Ter
XM_011514691.1:c.5478C>A	XP_011512993.1:p.Cys1826Ter
XM_011514691.3:c.5478C>A	XP_011512993.1:p.Cys1826Ter
XM_017010944.2:c.11403C>A	XP_016866433.1:p.Cys3801Ter
XM_017010945.2:c.11328C>A	XP_016866434.1:p.Cys3776Ter
XM_017010946.2:c.11208C>A	XP_016866435.1:p.Cys3736Ter
XM_017010947.2:c.11139C>A	XP_016866436.1:p.Cys3713Ter
XM_017010948.2:c.10692C>A	XP_016866437.1:p.Cys3564Ter
XM_017010949.2:c.9543C>A	XP_016866438.1:p.Cys3181Ter
XR_001743469.1:n.11693C>A