Canonical Allele Identifier: CA1628439840

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659823T= , CM000668.2:g.51659823T=	GRCh38
NC_000006.11:g.51524621T= , CM000668.1:g.51524621T=	GRCh37
NC_000006.10:g.51632580T=	NCBI36
NG_008753.1:g.432803A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10303A= MANE Select	ENSP00000360158.3:p.Ser3435=
ENST00000371117.7:c.10303A=	ENSP00000360158.3:p.Ser3435=
NM_138694.3:c.10303A=	NP_619639.3:p.Ser3435=
XM_011514679.1:c.10303A=	XP_011512981.1:p.Ser3435=
XM_011514680.1:c.10303A=	XP_011512982.1:p.Ser3435=
XM_011514681.1:c.10174A=	XP_011512983.1:p.Ser3392=
XM_011514682.1:c.10165A=	XP_011512984.1:p.Ser3389=
XM_011514683.1:c.9661A=	XP_011512985.1:p.Ser3221=
XM_011514684.1:c.9592A=	XP_011512986.1:p.Ser3198=
XM_011514687.1:c.10157-10603A=	XP_011512989.1:n.10157-10603A=
XM_011514690.1:c.4378A=	XP_011512992.1:p.Ser1460=
XM_011514691.1:c.4378A=	XP_011512993.1:p.Ser1460=
XR_926870.1:n.535+7450T=
XR_926871.1:n.403+7450T=
XR_926872.1:n.535+7450T=
XM_011514680.3:c.10303A=	XP_011512982.1:p.Ser3435=
XM_011514682.3:c.10165A=	XP_011512984.1:p.Ser3389=
XM_011514683.3:c.9661A=	XP_011512985.1:p.Ser3221=
XM_011514684.3:c.9592A=	XP_011512986.1:p.Ser3198=
XM_011514690.3:c.4378A=	XP_011512992.1:p.Ser1460=
XM_011514691.3:c.4378A=	XP_011512993.1:p.Ser1460=
XM_017010944.2:c.10303A=	XP_016866433.1:p.Ser3435=
XM_017010945.2:c.10228A=	XP_016866434.1:p.Ser3410=
XM_017010946.2:c.10108A=	XP_016866435.1:p.Ser3370=
XM_017010947.2:c.10039A=	XP_016866436.1:p.Ser3347=
XM_017010948.2:c.9592A=	XP_016866437.1:p.Ser3198=
XM_017010949.2:c.8443A=	XP_016866438.1:p.Ser2815=
XR_001743469.1:n.10579A=
XR_001744157.1:n.3145+7450T=
XR_926870.2:n.3145+7450T=
XR_926871.2:n.3013+7450T=
XR_926872.2:n.3145+7450T=
NM_138694.4:c.10303A= MANE Select	NP_619639.3:p.Ser3435=