Canonical Allele Identifier: CA1628439369

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659609G= , CM000668.2:g.51659609G=	GRCh38
NC_000006.11:g.51524407G= , CM000668.1:g.51524407G=	GRCh37
NC_000006.10:g.51632366G=	NCBI36
NG_008753.1:g.433017C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10517C= MANE Select	ENSP00000360158.3:p.Pro3506=
ENST00000371117.7:c.10517C=	ENSP00000360158.3:p.Pro3506=
NM_138694.3:c.10517C=	NP_619639.3:p.Pro3506=
XM_011514679.1:c.10517C=	XP_011512981.1:p.Pro3506=
XM_011514680.1:c.10517C=	XP_011512982.1:p.Pro3506=
XM_011514681.1:c.10388C=	XP_011512983.1:p.Pro3463=
XM_011514682.1:c.10379C=	XP_011512984.1:p.Pro3460=
XM_011514683.1:c.9875C=	XP_011512985.1:p.Pro3292=
XM_011514684.1:c.9806C=	XP_011512986.1:p.Pro3269=
XM_011514687.1:c.10157-10389C=	XP_011512989.1:n.10157-10389C=
XM_011514690.1:c.4592C=	XP_011512992.1:p.Pro1531=
XM_011514691.1:c.4592C=	XP_011512993.1:p.Pro1531=
XR_926870.1:n.535+7236G=
XR_926871.1:n.403+7236G=
XR_926872.1:n.535+7236G=
XM_011514680.3:c.10517C=	XP_011512982.1:p.Pro3506=
XM_011514682.3:c.10379C=	XP_011512984.1:p.Pro3460=
XM_011514683.3:c.9875C=	XP_011512985.1:p.Pro3292=
XM_011514684.3:c.9806C=	XP_011512986.1:p.Pro3269=
XM_011514690.3:c.4592C=	XP_011512992.1:p.Pro1531=
XM_011514691.3:c.4592C=	XP_011512993.1:p.Pro1531=
XM_017010944.2:c.10517C=	XP_016866433.1:p.Pro3506=
XM_017010945.2:c.10442C=	XP_016866434.1:p.Pro3481=
XM_017010946.2:c.10322C=	XP_016866435.1:p.Pro3441=
XM_017010947.2:c.10253C=	XP_016866436.1:p.Pro3418=
XM_017010948.2:c.9806C=	XP_016866437.1:p.Pro3269=
XM_017010949.2:c.8657C=	XP_016866438.1:p.Pro2886=
XR_001743469.1:n.10793C=
XR_001744157.1:n.3145+7236G=
XR_926870.2:n.3145+7236G=
XR_926871.2:n.3013+7236G=
XR_926872.2:n.3145+7236G=
NM_138694.4:c.10517C= MANE Select	NP_619639.3:p.Pro3506=