Canonical Allele Identifier: CA1628439468

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659655T= , CM000668.2:g.51659655T=	GRCh38
NC_000006.11:g.51524453T= , CM000668.1:g.51524453T=	GRCh37
NC_000006.10:g.51632412T=	NCBI36
NG_008753.1:g.432971A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10471A= MANE Select	ENSP00000360158.3:p.Thr3491=
ENST00000371117.7:c.10471A=	ENSP00000360158.3:p.Thr3491=
NM_138694.3:c.10471A=	NP_619639.3:p.Thr3491=
XM_011514679.1:c.10471A=	XP_011512981.1:p.Thr3491=
XM_011514680.1:c.10471A=	XP_011512982.1:p.Thr3491=
XM_011514681.1:c.10342A=	XP_011512983.1:p.Thr3448=
XM_011514682.1:c.10333A=	XP_011512984.1:p.Thr3445=
XM_011514683.1:c.9829A=	XP_011512985.1:p.Thr3277=
XM_011514684.1:c.9760A=	XP_011512986.1:p.Thr3254=
XM_011514687.1:c.10157-10435A=	XP_011512989.1:n.10157-10435A=
XM_011514690.1:c.4546A=	XP_011512992.1:p.Thr1516=
XM_011514691.1:c.4546A=	XP_011512993.1:p.Thr1516=
XR_926870.1:n.535+7282T=
XR_926871.1:n.403+7282T=
XR_926872.1:n.535+7282T=
XM_011514680.3:c.10471A=	XP_011512982.1:p.Thr3491=
XM_011514682.3:c.10333A=	XP_011512984.1:p.Thr3445=
XM_011514683.3:c.9829A=	XP_011512985.1:p.Thr3277=
XM_011514684.3:c.9760A=	XP_011512986.1:p.Thr3254=
XM_011514690.3:c.4546A=	XP_011512992.1:p.Thr1516=
XM_011514691.3:c.4546A=	XP_011512993.1:p.Thr1516=
XM_017010944.2:c.10471A=	XP_016866433.1:p.Thr3491=
XM_017010945.2:c.10396A=	XP_016866434.1:p.Thr3466=
XM_017010946.2:c.10276A=	XP_016866435.1:p.Thr3426=
XM_017010947.2:c.10207A=	XP_016866436.1:p.Thr3403=
XM_017010948.2:c.9760A=	XP_016866437.1:p.Thr3254=
XM_017010949.2:c.8611A=	XP_016866438.1:p.Thr2871=
XR_001743469.1:n.10747A=
XR_001744157.1:n.3145+7282T=
XR_926870.2:n.3145+7282T=
XR_926871.2:n.3013+7282T=
XR_926872.2:n.3145+7282T=
NM_138694.4:c.10471A= MANE Select	NP_619639.3:p.Thr3491=