Canonical Allele Identifier: CA1628500610

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51746865T= , CM000668.2:g.51746865T=	GRCh38
NC_000006.11:g.51611663T= , CM000668.1:g.51611663T=	GRCh37
NC_000006.10:g.51719622T=	NCBI36
NG_008753.1:g.345761A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.9854A= MANE Select	ENSP00000360158.3:p.Lys3285=
ENST00000340994.4:c.9854A=	ENSP00000341097.4:p.Lys3285=
ENST00000371117.7:c.9854A=	ENSP00000360158.3:p.Lys3285=
NM_138694.3:c.9854A=	NP_619639.3:p.Lys3285=
NM_170724.2:c.9854A=	NP_733842.2:p.Lys3285=
XM_011514679.1:c.9854A=	XP_011512981.1:p.Lys3285=
XM_011514680.1:c.9854A=	XP_011512982.1:p.Lys3285=
XM_011514681.1:c.9725A=	XP_011512983.1:p.Lys3242=
XM_011514682.1:c.9716A=	XP_011512984.1:p.Lys3239=
XM_011514683.1:c.9212A=	XP_011512985.1:p.Lys3071=
XM_011514684.1:c.9143A=	XP_011512986.1:p.Lys3048=
XM_011514685.1:c.9854A=	XP_011512987.1:p.Lys3285=
XM_011514686.1:c.9854A=	XP_011512988.1:p.Lys3285=
XM_011514687.1:c.9854A=	XP_011512989.1:p.Lys3285=
XM_011514688.1:c.*1A=	XP_011512990.1:n.*1A=
XM_011514690.1:c.3929A=	XP_011512992.1:p.Lys1310=
XM_011514691.1:c.3929A=	XP_011512993.1:p.Lys1310=
XM_011514680.3:c.9854A=	XP_011512982.1:p.Lys3285=
XM_011514682.3:c.9716A=	XP_011512984.1:p.Lys3239=
XM_011514683.3:c.9212A=	XP_011512985.1:p.Lys3071=
XM_011514684.3:c.9143A=	XP_011512986.1:p.Lys3048=
XM_011514686.2:c.9854A=	XP_011512988.1:p.Lys3285=
XM_011514688.2:c.*1A=	XP_011512990.1:n.*1A=
XM_011514690.3:c.3929A=	XP_011512992.1:p.Lys1310=
XM_011514691.3:c.3929A=	XP_011512993.1:p.Lys1310=
XM_017010944.2:c.9854A=	XP_016866433.1:p.Lys3285=
XM_017010945.2:c.9779A=	XP_016866434.1:p.Lys3260=
XM_017010946.2:c.9659A=	XP_016866435.1:p.Lys3220=
XM_017010947.2:c.9590A=	XP_016866436.1:p.Lys3197=
XM_017010948.2:c.9143A=	XP_016866437.1:p.Lys3048=
XM_017010949.2:c.7994A=	XP_016866438.1:p.Lys2665=
XM_017010950.1:c.9854A=	XP_016866439.1:p.Lys3285=
XR_001743469.1:n.10130A=
NM_138694.4:c.9854A= MANE Select	NP_619639.3:p.Lys3285=
NM_170724.3:c.9854A=	NP_733842.2:p.Lys3285=