Canonical Allele Identifier: CA450613288

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51659710-G-A
• MyVariant Identifiers: chr6:g.51524508G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659710G>A , CM000668.2:g.51659710G>A	GRCh38
NC_000006.11:g.51524508G>A , CM000668.1:g.51524508G>A	GRCh37
NC_000006.10:g.51632467G>A	NCBI36
NG_008753.1:g.432916C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10416C>T MANE Select	ENSP00000360158.3:p.Cys3472=
ENST00000371117.7:c.10416C>T	ENSP00000360158.3:p.Cys3472=
NM_138694.3:c.10416C>T	NP_619639.3:p.Cys3472=
XM_011514679.1:c.10416C>T	XP_011512981.1:p.Cys3472=
XM_011514680.1:c.10416C>T	XP_011512982.1:p.Cys3472=
XM_011514681.1:c.10287C>T	XP_011512983.1:p.Cys3429=
XM_011514682.1:c.10278C>T	XP_011512984.1:p.Cys3426=
XM_011514683.1:c.9774C>T	XP_011512985.1:p.Cys3258=
XM_011514684.1:c.9705C>T	XP_011512986.1:p.Cys3235=
XM_011514687.1:c.10157-10490C>T	XP_011512989.1:n.10157-10490C>T
XM_011514690.1:c.4491C>T	XP_011512992.1:p.Cys1497=
XM_011514691.1:c.4491C>T	XP_011512993.1:p.Cys1497=
XR_926870.1:n.535+7337G>A
XR_926871.1:n.403+7337G>A
XR_926872.1:n.535+7337G>A
XM_011514680.3:c.10416C>T	XP_011512982.1:p.Cys3472=
XM_011514682.3:c.10278C>T	XP_011512984.1:p.Cys3426=
XM_011514683.3:c.9774C>T	XP_011512985.1:p.Cys3258=
XM_011514684.3:c.9705C>T	XP_011512986.1:p.Cys3235=
XM_011514690.3:c.4491C>T	XP_011512992.1:p.Cys1497=
XM_011514691.3:c.4491C>T	XP_011512993.1:p.Cys1497=
XM_017010944.2:c.10416C>T	XP_016866433.1:p.Cys3472=
XM_017010945.2:c.10341C>T	XP_016866434.1:p.Cys3447=
XM_017010946.2:c.10221C>T	XP_016866435.1:p.Cys3407=
XM_017010947.2:c.10152C>T	XP_016866436.1:p.Cys3384=
XM_017010948.2:c.9705C>T	XP_016866437.1:p.Cys3235=
XM_017010949.2:c.8556C>T	XP_016866438.1:p.Cys2852=
XR_001743469.1:n.10692C>T
XR_001744157.1:n.3145+7337G>A
XR_926870.2:n.3145+7337G>A
XR_926871.2:n.3013+7337G>A
XR_926872.2:n.3145+7337G>A
NM_138694.4:c.10416C>T MANE Select	NP_619639.3:p.Cys3472=