Canonical Allele Identifier: CA1628440004

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659926C= , CM000668.2:g.51659926C=	GRCh38
NC_000006.11:g.51524724C= , CM000668.1:g.51524724C=	GRCh37
NC_000006.10:g.51632683C=	NCBI36
NG_008753.1:g.432700G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10200G= MANE Select	ENSP00000360158.3:p.Met3400=
ENST00000371117.7:c.10200G=	ENSP00000360158.3:p.Met3400=
NM_138694.3:c.10200G=	NP_619639.3:p.Met3400=
XM_011514679.1:c.10200G=	XP_011512981.1:p.Met3400=
XM_011514680.1:c.10200G=	XP_011512982.1:p.Met3400=
XM_011514681.1:c.10071G=	XP_011512983.1:p.Met3357=
XM_011514682.1:c.10062G=	XP_011512984.1:p.Met3354=
XM_011514683.1:c.9558G=	XP_011512985.1:p.Met3186=
XM_011514684.1:c.9489G=	XP_011512986.1:p.Met3163=
XM_011514687.1:c.10157-10706G=	XP_011512989.1:n.10157-10706G=
XM_011514690.1:c.4275G=	XP_011512992.1:p.Met1425=
XM_011514691.1:c.4275G=	XP_011512993.1:p.Met1425=
XR_926870.1:n.535+7553C=
XR_926871.1:n.403+7553C=
XR_926872.1:n.535+7553C=
XM_011514680.3:c.10200G=	XP_011512982.1:p.Met3400=
XM_011514682.3:c.10062G=	XP_011512984.1:p.Met3354=
XM_011514683.3:c.9558G=	XP_011512985.1:p.Met3186=
XM_011514684.3:c.9489G=	XP_011512986.1:p.Met3163=
XM_011514690.3:c.4275G=	XP_011512992.1:p.Met1425=
XM_011514691.3:c.4275G=	XP_011512993.1:p.Met1425=
XM_017010944.2:c.10200G=	XP_016866433.1:p.Met3400=
XM_017010945.2:c.10125G=	XP_016866434.1:p.Met3375=
XM_017010946.2:c.10005G=	XP_016866435.1:p.Met3335=
XM_017010947.2:c.9936G=	XP_016866436.1:p.Met3312=
XM_017010948.2:c.9489G=	XP_016866437.1:p.Met3163=
XM_017010949.2:c.8340G=	XP_016866438.1:p.Met2780=
XR_001743469.1:n.10476G=
XR_001744157.1:n.3145+7553C=
XR_926870.2:n.3145+7553C=
XR_926871.2:n.3013+7553C=
XR_926872.2:n.3145+7553C=
NM_138694.4:c.10200G= MANE Select	NP_619639.3:p.Met3400=