Canonical Allele Identifier: CA1628439449

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659651G= , CM000668.2:g.51659651G=	GRCh38
NC_000006.11:g.51524449G= , CM000668.1:g.51524449G=	GRCh37
NC_000006.10:g.51632408G=	NCBI36
NG_008753.1:g.432975C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10475C= MANE Select	ENSP00000360158.3:p.Ser3492=
ENST00000371117.7:c.10475C=	ENSP00000360158.3:p.Ser3492=
NM_138694.3:c.10475C=	NP_619639.3:p.Ser3492=
XM_011514679.1:c.10475C=	XP_011512981.1:p.Ser3492=
XM_011514680.1:c.10475C=	XP_011512982.1:p.Ser3492=
XM_011514681.1:c.10346C=	XP_011512983.1:p.Ser3449=
XM_011514682.1:c.10337C=	XP_011512984.1:p.Ser3446=
XM_011514683.1:c.9833C=	XP_011512985.1:p.Ser3278=
XM_011514684.1:c.9764C=	XP_011512986.1:p.Ser3255=
XM_011514687.1:c.10157-10431C=	XP_011512989.1:n.10157-10431C=
XM_011514690.1:c.4550C=	XP_011512992.1:p.Ser1517=
XM_011514691.1:c.4550C=	XP_011512993.1:p.Ser1517=
XR_926870.1:n.535+7278G=
XR_926871.1:n.403+7278G=
XR_926872.1:n.535+7278G=
XM_011514680.3:c.10475C=	XP_011512982.1:p.Ser3492=
XM_011514682.3:c.10337C=	XP_011512984.1:p.Ser3446=
XM_011514683.3:c.9833C=	XP_011512985.1:p.Ser3278=
XM_011514684.3:c.9764C=	XP_011512986.1:p.Ser3255=
XM_011514690.3:c.4550C=	XP_011512992.1:p.Ser1517=
XM_011514691.3:c.4550C=	XP_011512993.1:p.Ser1517=
XM_017010944.2:c.10475C=	XP_016866433.1:p.Ser3492=
XM_017010945.2:c.10400C=	XP_016866434.1:p.Ser3467=
XM_017010946.2:c.10280C=	XP_016866435.1:p.Ser3427=
XM_017010947.2:c.10211C=	XP_016866436.1:p.Ser3404=
XM_017010948.2:c.9764C=	XP_016866437.1:p.Ser3255=
XM_017010949.2:c.8615C=	XP_016866438.1:p.Ser2872=
XR_001743469.1:n.10751C=
XR_001744157.1:n.3145+7278G=
XR_926870.2:n.3145+7278G=
XR_926871.2:n.3013+7278G=
XR_926872.2:n.3145+7278G=
NM_138694.4:c.10475C= MANE Select	NP_619639.3:p.Ser3492=