Canonical Allele Identifier: CA1628438743

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659264T= , CM000668.2:g.51659264T=	GRCh38
NC_000006.11:g.51524062T= , CM000668.1:g.51524062T=	GRCh37
NC_000006.10:g.51632021T=	NCBI36
NG_008753.1:g.433362A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10862A= MANE Select	ENSP00000360158.3:p.Asn3621=
ENST00000371117.7:c.10862A=	ENSP00000360158.3:p.Asn3621=
NM_138694.3:c.10862A=	NP_619639.3:p.Asn3621=
XM_011514679.1:c.10862A=	XP_011512981.1:p.Asn3621=
XM_011514680.1:c.10862A=	XP_011512982.1:p.Asn3621=
XM_011514681.1:c.10733A=	XP_011512983.1:p.Asn3578=
XM_011514682.1:c.10724A=	XP_011512984.1:p.Asn3575=
XM_011514683.1:c.10220A=	XP_011512985.1:p.Asn3407=
XM_011514684.1:c.10151A=	XP_011512986.1:p.Asn3384=
XM_011514687.1:c.10157-10044A=	XP_011512989.1:n.10157-10044A=
XM_011514690.1:c.4937A=	XP_011512992.1:p.Asn1646=
XM_011514691.1:c.4937A=	XP_011512993.1:p.Asn1646=
XR_926870.1:n.535+6891T=
XR_926871.1:n.403+6891T=
XR_926872.1:n.535+6891T=
XM_011514680.3:c.10862A=	XP_011512982.1:p.Asn3621=
XM_011514682.3:c.10724A=	XP_011512984.1:p.Asn3575=
XM_011514683.3:c.10220A=	XP_011512985.1:p.Asn3407=
XM_011514684.3:c.10151A=	XP_011512986.1:p.Asn3384=
XM_011514690.3:c.4937A=	XP_011512992.1:p.Asn1646=
XM_011514691.3:c.4937A=	XP_011512993.1:p.Asn1646=
XM_017010944.2:c.10862A=	XP_016866433.1:p.Asn3621=
XM_017010945.2:c.10787A=	XP_016866434.1:p.Asn3596=
XM_017010946.2:c.10667A=	XP_016866435.1:p.Asn3556=
XM_017010947.2:c.10598A=	XP_016866436.1:p.Asn3533=
XM_017010948.2:c.10151A=	XP_016866437.1:p.Asn3384=
XM_017010949.2:c.9002A=	XP_016866438.1:p.Asn3001=
XR_001743469.1:n.11138A=
XR_001744157.1:n.3145+6891T=
XR_926870.2:n.3145+6891T=
XR_926871.2:n.3013+6891T=
XR_926872.2:n.3145+6891T=
NM_138694.4:c.10862A= MANE Select	NP_619639.3:p.Asn3621=