Canonical Allele Identifier: CA1628647810

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52025407A= , CM000668.2:g.52025407A=	GRCh38
NC_000006.11:g.51890205A= , CM000668.1:g.51890205A=	GRCh37
NC_000006.10:g.51998164A=	NCBI36
NG_008753.1:g.67219T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.4403T= MANE Select	ENSP00000360158.3:p.Leu1468=
ENST00000340994.4:c.4403T=	ENSP00000341097.4:p.Leu1468=
ENST00000371117.7:c.4403T=	ENSP00000360158.3:p.Leu1468=
NM_138694.3:c.4403T=	NP_619639.3:p.Leu1468=
NM_170724.2:c.4403T=	NP_733842.2:p.Leu1468=
XM_011514679.1:c.4403T=	XP_011512981.1:p.Leu1468=
XM_011514680.1:c.4403T=	XP_011512982.1:p.Leu1468=
XM_011514681.1:c.4403T=	XP_011512983.1:p.Leu1468=
XM_011514682.1:c.4403T=	XP_011512984.1:p.Leu1468=
XM_011514683.1:c.4101+302T=	XP_011512985.1:n.4101+302T=
XM_011514684.1:c.3692T=	XP_011512986.1:p.Leu1231=
XM_011514685.1:c.4403T=	XP_011512987.1:p.Leu1468=
XM_011514686.1:c.4403T=	XP_011512988.1:p.Leu1468=
XM_011514687.1:c.4403T=	XP_011512989.1:p.Leu1468=
XM_011514688.1:c.4403T=	XP_011512990.1:p.Leu1468=
XM_011514689.1:c.4403T=	XP_011512991.1:p.Leu1468=
XM_011514680.3:c.4403T=	XP_011512982.1:p.Leu1468=
XM_011514682.3:c.4403T=	XP_011512984.1:p.Leu1468=
XM_011514683.3:c.4101+302T=	XP_011512985.1:n.4101+302T=
XM_011514684.3:c.3692T=	XP_011512986.1:p.Leu1231=
XM_011514686.2:c.4403T=	XP_011512988.1:p.Leu1468=
XM_011514688.2:c.4403T=	XP_011512990.1:p.Leu1468=
XM_017010944.2:c.4403T=	XP_016866433.1:p.Leu1468=
XM_017010945.2:c.4328T=	XP_016866434.1:p.Leu1443=
XM_017010946.2:c.4403T=	XP_016866435.1:p.Leu1468=
XM_017010947.2:c.4139T=	XP_016866436.1:p.Leu1380=
XM_017010948.2:c.3692T=	XP_016866437.1:p.Leu1231=
XM_017010949.2:c.2543T=	XP_016866438.1:p.Leu848=
XM_017010950.1:c.4403T=	XP_016866439.1:p.Leu1468=
XM_017010951.1:c.4403T=	XP_016866440.1:p.Leu1468=
XM_017010952.1:c.4403T=	XP_016866441.1:p.Leu1468=
XR_001743469.1:n.4679T=
NM_138694.4:c.4403T= MANE Select	NP_619639.3:p.Leu1468=
NM_170724.3:c.4403T=	NP_733842.2:p.Leu1468=