Canonical Allele Identifier: CA450612673

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51523854A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659056A>T , CM000668.2:g.51659056A>T	GRCh38
NC_000006.11:g.51523854A>T , CM000668.1:g.51523854A>T	GRCh37
NC_000006.10:g.51631813A>T	NCBI36
NG_008753.1:g.433570T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.11070T>A MANE Select	ENSP00000360158.3:p.Ala3690=
ENST00000371117.7:c.11070T>A	ENSP00000360158.3:p.Ala3690=
NM_138694.3:c.11070T>A	NP_619639.3:p.Ala3690=
XM_011514679.1:c.11070T>A	XP_011512981.1:p.Ala3690=
XM_011514680.1:c.11070T>A	XP_011512982.1:p.Ala3690=
XM_011514681.1:c.10941T>A	XP_011512983.1:p.Ala3647=
XM_011514682.1:c.10932T>A	XP_011512984.1:p.Ala3644=
XM_011514683.1:c.10428T>A	XP_011512985.1:p.Ala3476=
XM_011514684.1:c.10359T>A	XP_011512986.1:p.Ala3453=
XM_011514687.1:c.10157-9836T>A	XP_011512989.1:n.10157-9836T>A
XM_011514690.1:c.5145T>A	XP_011512992.1:p.Ala1715=
XM_011514691.1:c.5145T>A	XP_011512993.1:p.Ala1715=
XR_926870.1:n.535+6683A>T
XR_926871.1:n.403+6683A>T
XR_926872.1:n.535+6683A>T
XM_011514680.3:c.11070T>A	XP_011512982.1:p.Ala3690=
XM_011514682.3:c.10932T>A	XP_011512984.1:p.Ala3644=
XM_011514683.3:c.10428T>A	XP_011512985.1:p.Ala3476=
XM_011514684.3:c.10359T>A	XP_011512986.1:p.Ala3453=
XM_011514690.3:c.5145T>A	XP_011512992.1:p.Ala1715=
XM_011514691.3:c.5145T>A	XP_011512993.1:p.Ala1715=
XM_017010944.2:c.11070T>A	XP_016866433.1:p.Ala3690=
XM_017010945.2:c.10995T>A	XP_016866434.1:p.Ala3665=
XM_017010946.2:c.10875T>A	XP_016866435.1:p.Ala3625=
XM_017010947.2:c.10806T>A	XP_016866436.1:p.Ala3602=
XM_017010948.2:c.10359T>A	XP_016866437.1:p.Ala3453=
XM_017010949.2:c.9210T>A	XP_016866438.1:p.Ala3070=
XR_001743469.1:n.11346T>A
XR_001744157.1:n.3145+6683A>T
XR_926870.2:n.3145+6683A>T
XR_926871.2:n.3013+6683A>T
XR_926872.2:n.3145+6683A>T
NM_138694.4:c.11070T>A MANE Select	NP_619639.3:p.Ala3690=