Canonical Allele Identifier: CA450612789

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524049C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659251C>T , CM000668.2:g.51659251C>T	GRCh38
NC_000006.11:g.51524049C>T , CM000668.1:g.51524049C>T	GRCh37
NC_000006.10:g.51632008C>T	NCBI36
NG_008753.1:g.433375G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10875G>A MANE Select	ENSP00000360158.3:p.Val3625=
ENST00000371117.7:c.10875G>A	ENSP00000360158.3:p.Val3625=
NM_138694.3:c.10875G>A	NP_619639.3:p.Val3625=
XM_011514679.1:c.10875G>A	XP_011512981.1:p.Val3625=
XM_011514680.1:c.10875G>A	XP_011512982.1:p.Val3625=
XM_011514681.1:c.10746G>A	XP_011512983.1:p.Val3582=
XM_011514682.1:c.10737G>A	XP_011512984.1:p.Val3579=
XM_011514683.1:c.10233G>A	XP_011512985.1:p.Val3411=
XM_011514684.1:c.10164G>A	XP_011512986.1:p.Val3388=
XM_011514687.1:c.10157-10031G>A	XP_011512989.1:n.10157-10031G>A
XM_011514690.1:c.4950G>A	XP_011512992.1:p.Val1650=
XM_011514691.1:c.4950G>A	XP_011512993.1:p.Val1650=
XR_926870.1:n.535+6878C>T
XR_926871.1:n.403+6878C>T
XR_926872.1:n.535+6878C>T
XM_011514680.3:c.10875G>A	XP_011512982.1:p.Val3625=
XM_011514682.3:c.10737G>A	XP_011512984.1:p.Val3579=
XM_011514683.3:c.10233G>A	XP_011512985.1:p.Val3411=
XM_011514684.3:c.10164G>A	XP_011512986.1:p.Val3388=
XM_011514690.3:c.4950G>A	XP_011512992.1:p.Val1650=
XM_011514691.3:c.4950G>A	XP_011512993.1:p.Val1650=
XM_017010944.2:c.10875G>A	XP_016866433.1:p.Val3625=
XM_017010945.2:c.10800G>A	XP_016866434.1:p.Val3600=
XM_017010946.2:c.10680G>A	XP_016866435.1:p.Val3560=
XM_017010947.2:c.10611G>A	XP_016866436.1:p.Val3537=
XM_017010948.2:c.10164G>A	XP_016866437.1:p.Val3388=
XM_017010949.2:c.9015G>A	XP_016866438.1:p.Val3005=
XR_001743469.1:n.11151G>A
XR_001744157.1:n.3145+6878C>T
XR_926870.2:n.3145+6878C>T
XR_926871.2:n.3013+6878C>T
XR_926872.2:n.3145+6878C>T
NM_138694.4:c.10875G>A MANE Select	NP_619639.3:p.Val3625=