Canonical Allele Identifier: CA450612704

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51523908T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659110T>A , CM000668.2:g.51659110T>A	GRCh38
NC_000006.11:g.51523908T>A , CM000668.1:g.51523908T>A	GRCh37
NC_000006.10:g.51631867T>A	NCBI36
NG_008753.1:g.433516A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11016A>T MANE Select	ENSP00000360158.3:p.Val3672=
ENST00000371117.7:c.11016A>T	ENSP00000360158.3:p.Val3672=
NM_138694.3:c.11016A>T	NP_619639.3:p.Val3672=
XM_011514679.1:c.11016A>T	XP_011512981.1:p.Val3672=
XM_011514680.1:c.11016A>T	XP_011512982.1:p.Val3672=
XM_011514681.1:c.10887A>T	XP_011512983.1:p.Val3629=
XM_011514682.1:c.10878A>T	XP_011512984.1:p.Val3626=
XM_011514683.1:c.10374A>T	XP_011512985.1:p.Val3458=
XM_011514684.1:c.10305A>T	XP_011512986.1:p.Val3435=
XM_011514687.1:c.10157-9890A>T	XP_011512989.1:n.10157-9890A>T
XM_011514690.1:c.5091A>T	XP_011512992.1:p.Val1697=
XM_011514691.1:c.5091A>T	XP_011512993.1:p.Val1697=
XR_926870.1:n.535+6737T>A
XR_926871.1:n.403+6737T>A
XR_926872.1:n.535+6737T>A
XM_011514680.3:c.11016A>T	XP_011512982.1:p.Val3672=
XM_011514682.3:c.10878A>T	XP_011512984.1:p.Val3626=
XM_011514683.3:c.10374A>T	XP_011512985.1:p.Val3458=
XM_011514684.3:c.10305A>T	XP_011512986.1:p.Val3435=
XM_011514690.3:c.5091A>T	XP_011512992.1:p.Val1697=
XM_011514691.3:c.5091A>T	XP_011512993.1:p.Val1697=
XM_017010944.2:c.11016A>T	XP_016866433.1:p.Val3672=
XM_017010945.2:c.10941A>T	XP_016866434.1:p.Val3647=
XM_017010946.2:c.10821A>T	XP_016866435.1:p.Val3607=
XM_017010947.2:c.10752A>T	XP_016866436.1:p.Val3584=
XM_017010948.2:c.10305A>T	XP_016866437.1:p.Val3435=
XM_017010949.2:c.9156A>T	XP_016866438.1:p.Val3052=
XR_001743469.1:n.11292A>T
XR_001744157.1:n.3145+6737T>A
XR_926870.2:n.3145+6737T>A
XR_926871.2:n.3013+6737T>A
XR_926872.2:n.3145+6737T>A
NM_138694.4:c.11016A>T MANE Select	NP_619639.3:p.Val3672=