Canonical Allele Identifier: CA450612791

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51523977A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659179A>T , CM000668.2:g.51659179A>T	GRCh38
NC_000006.11:g.51523977A>T , CM000668.1:g.51523977A>T	GRCh37
NC_000006.10:g.51631936A>T	NCBI36
NG_008753.1:g.433447T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10947T>A MANE Select	ENSP00000360158.3:p.Ala3649=
ENST00000371117.7:c.10947T>A	ENSP00000360158.3:p.Ala3649=
NM_138694.3:c.10947T>A	NP_619639.3:p.Ala3649=
XM_011514679.1:c.10947T>A	XP_011512981.1:p.Ala3649=
XM_011514680.1:c.10947T>A	XP_011512982.1:p.Ala3649=
XM_011514681.1:c.10818T>A	XP_011512983.1:p.Ala3606=
XM_011514682.1:c.10809T>A	XP_011512984.1:p.Ala3603=
XM_011514683.1:c.10305T>A	XP_011512985.1:p.Ala3435=
XM_011514684.1:c.10236T>A	XP_011512986.1:p.Ala3412=
XM_011514687.1:c.10157-9959T>A	XP_011512989.1:n.10157-9959T>A
XM_011514690.1:c.5022T>A	XP_011512992.1:p.Ala1674=
XM_011514691.1:c.5022T>A	XP_011512993.1:p.Ala1674=
XR_926870.1:n.535+6806A>T
XR_926871.1:n.403+6806A>T
XR_926872.1:n.535+6806A>T
XM_011514680.3:c.10947T>A	XP_011512982.1:p.Ala3649=
XM_011514682.3:c.10809T>A	XP_011512984.1:p.Ala3603=
XM_011514683.3:c.10305T>A	XP_011512985.1:p.Ala3435=
XM_011514684.3:c.10236T>A	XP_011512986.1:p.Ala3412=
XM_011514690.3:c.5022T>A	XP_011512992.1:p.Ala1674=
XM_011514691.3:c.5022T>A	XP_011512993.1:p.Ala1674=
XM_017010944.2:c.10947T>A	XP_016866433.1:p.Ala3649=
XM_017010945.2:c.10872T>A	XP_016866434.1:p.Ala3624=
XM_017010946.2:c.10752T>A	XP_016866435.1:p.Ala3584=
XM_017010947.2:c.10683T>A	XP_016866436.1:p.Ala3561=
XM_017010948.2:c.10236T>A	XP_016866437.1:p.Ala3412=
XM_017010949.2:c.9087T>A	XP_016866438.1:p.Ala3029=
XR_001743469.1:n.11223T>A
XR_001744157.1:n.3145+6806A>T
XR_926870.2:n.3145+6806A>T
XR_926871.2:n.3013+6806A>T
XR_926872.2:n.3145+6806A>T
NM_138694.4:c.10947T>A MANE Select	NP_619639.3:p.Ala3649=