Canonical Allele Identifier: CA1628439372

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659611G= , CM000668.2:g.51659611G=	GRCh38
NC_000006.11:g.51524409G= , CM000668.1:g.51524409G=	GRCh37
NC_000006.10:g.51632368G=	NCBI36
NG_008753.1:g.433015C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10515C= MANE Select	ENSP00000360158.3:p.Ser3505=
ENST00000371117.7:c.10515C=	ENSP00000360158.3:p.Ser3505=
NM_138694.3:c.10515C=	NP_619639.3:p.Ser3505=
XM_011514679.1:c.10515C=	XP_011512981.1:p.Ser3505=
XM_011514680.1:c.10515C=	XP_011512982.1:p.Ser3505=
XM_011514681.1:c.10386C=	XP_011512983.1:p.Ser3462=
XM_011514682.1:c.10377C=	XP_011512984.1:p.Ser3459=
XM_011514683.1:c.9873C=	XP_011512985.1:p.Ser3291=
XM_011514684.1:c.9804C=	XP_011512986.1:p.Ser3268=
XM_011514687.1:c.10157-10391C=	XP_011512989.1:n.10157-10391C=
XM_011514690.1:c.4590C=	XP_011512992.1:p.Ser1530=
XM_011514691.1:c.4590C=	XP_011512993.1:p.Ser1530=
XR_926870.1:n.535+7238G=
XR_926871.1:n.403+7238G=
XR_926872.1:n.535+7238G=
XM_011514680.3:c.10515C=	XP_011512982.1:p.Ser3505=
XM_011514682.3:c.10377C=	XP_011512984.1:p.Ser3459=
XM_011514683.3:c.9873C=	XP_011512985.1:p.Ser3291=
XM_011514684.3:c.9804C=	XP_011512986.1:p.Ser3268=
XM_011514690.3:c.4590C=	XP_011512992.1:p.Ser1530=
XM_011514691.3:c.4590C=	XP_011512993.1:p.Ser1530=
XM_017010944.2:c.10515C=	XP_016866433.1:p.Ser3505=
XM_017010945.2:c.10440C=	XP_016866434.1:p.Ser3480=
XM_017010946.2:c.10320C=	XP_016866435.1:p.Ser3440=
XM_017010947.2:c.10251C=	XP_016866436.1:p.Ser3417=
XM_017010948.2:c.9804C=	XP_016866437.1:p.Ser3268=
XM_017010949.2:c.8655C=	XP_016866438.1:p.Ser2885=
XR_001743469.1:n.10791C=
XR_001744157.1:n.3145+7238G=
XR_926870.2:n.3145+7238G=
XR_926871.2:n.3013+7238G=
XR_926872.2:n.3145+7238G=
NM_138694.4:c.10515C= MANE Select	NP_619639.3:p.Ser3505=