Canonical Allele Identifier: CA246899

Gene: PKHD1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51658996G>A , CM000668.2:g.51658996G>A	GRCh38
NC_000006.11:g.51523794G>A , CM000668.1:g.51523794G>A	GRCh37
NC_000006.10:g.51631753G>A	NCBI36
NG_008753.1:g.433630C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11130C>T MANE Select	ENSP00000360158.3:p.Ile3710=
ENST00000371117.7:c.11130C>T	ENSP00000360158.3:p.Ile3710=
NM_138694.3:c.11130C>T	NP_619639.3:p.Ile3710=
XM_011514679.1:c.11130C>T	XP_011512981.1:p.Ile3710=
XM_011514680.1:c.11130C>T	XP_011512982.1:p.Ile3710=
XM_011514681.1:c.11001C>T	XP_011512983.1:p.Ile3667=
XM_011514682.1:c.10992C>T	XP_011512984.1:p.Ile3664=
XM_011514683.1:c.10488C>T	XP_011512985.1:p.Ile3496=
XM_011514684.1:c.10419C>T	XP_011512986.1:p.Ile3473=
XM_011514687.1:c.10157-9776C>T	XP_011512989.1:n.10157-9776C>T
XM_011514690.1:c.5205C>T	XP_011512992.1:p.Ile1735=
XM_011514691.1:c.5205C>T	XP_011512993.1:p.Ile1735=
XR_926870.1:n.535+6623G>A
XR_926871.1:n.403+6623G>A
XR_926872.1:n.535+6623G>A
XM_011514680.3:c.11130C>T	XP_011512982.1:p.Ile3710=
XM_011514682.3:c.10992C>T	XP_011512984.1:p.Ile3664=
XM_011514683.3:c.10488C>T	XP_011512985.1:p.Ile3496=
XM_011514684.3:c.10419C>T	XP_011512986.1:p.Ile3473=
XM_011514690.3:c.5205C>T	XP_011512992.1:p.Ile1735=
XM_011514691.3:c.5205C>T	XP_011512993.1:p.Ile1735=
XM_017010944.2:c.11130C>T	XP_016866433.1:p.Ile3710=
XM_017010945.2:c.11055C>T	XP_016866434.1:p.Ile3685=
XM_017010946.2:c.10935C>T	XP_016866435.1:p.Ile3645=
XM_017010947.2:c.10866C>T	XP_016866436.1:p.Ile3622=
XM_017010948.2:c.10419C>T	XP_016866437.1:p.Ile3473=
XM_017010949.2:c.9270C>T	XP_016866438.1:p.Ile3090=
XR_001743469.1:n.11406C>T
XR_001744157.1:n.3145+6623G>A
XR_926870.2:n.3145+6623G>A
XR_926871.2:n.3013+6623G>A
XR_926872.2:n.3145+6623G>A
NM_138694.4:c.11130C>T MANE Select	NP_619639.3:p.Ile3710=