Canonical Allele Identifier: CA364434867

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51659646-G-T
• MyVariant Identifiers: chr6:g.51524444G>T (hg19) ; chr6:g.51659646G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659646G>T , CM000668.2:g.51659646G>T	GRCh38
NC_000006.11:g.51524444G>T , CM000668.1:g.51524444G>T	GRCh37
NC_000006.10:g.51632403G>T	NCBI36
NG_008753.1:g.432980C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10480C>A MANE Select	ENSP00000360158.3:p.Leu3494Ile
ENST00000371117.7:c.10480C>A	ENSP00000360158.3:p.Leu3494Ile
NM_138694.3:c.10480C>A	NP_619639.3:p.Leu3494Ile
XM_011514679.1:c.10480C>A	XP_011512981.1:p.Leu3494Ile
XM_011514680.1:c.10480C>A	XP_011512982.1:p.Leu3494Ile
XM_011514681.1:c.10351C>A	XP_011512983.1:p.Leu3451Ile
XM_011514682.1:c.10342C>A	XP_011512984.1:p.Leu3448Ile
XM_011514683.1:c.9838C>A	XP_011512985.1:p.Leu3280Ile
XM_011514684.1:c.9769C>A	XP_011512986.1:p.Leu3257Ile
XM_011514687.1:c.10157-10426C>A	XP_011512989.1:n.10157-10426C>A
XM_011514690.1:c.4555C>A	XP_011512992.1:p.Leu1519Ile
XM_011514691.1:c.4555C>A	XP_011512993.1:p.Leu1519Ile
XR_926870.1:n.535+7273G>T
XR_926871.1:n.403+7273G>T
XR_926872.1:n.535+7273G>T
XM_011514680.3:c.10480C>A	XP_011512982.1:p.Leu3494Ile
XM_011514682.3:c.10342C>A	XP_011512984.1:p.Leu3448Ile
XM_011514683.3:c.9838C>A	XP_011512985.1:p.Leu3280Ile
XM_011514684.3:c.9769C>A	XP_011512986.1:p.Leu3257Ile
XM_011514690.3:c.4555C>A	XP_011512992.1:p.Leu1519Ile
XM_011514691.3:c.4555C>A	XP_011512993.1:p.Leu1519Ile
XM_017010944.2:c.10480C>A	XP_016866433.1:p.Leu3494Ile
XM_017010945.2:c.10405C>A	XP_016866434.1:p.Leu3469Ile
XM_017010946.2:c.10285C>A	XP_016866435.1:p.Leu3429Ile
XM_017010947.2:c.10216C>A	XP_016866436.1:p.Leu3406Ile
XM_017010948.2:c.9769C>A	XP_016866437.1:p.Leu3257Ile
XM_017010949.2:c.8620C>A	XP_016866438.1:p.Leu2874Ile
XR_001743469.1:n.10756C>A
XR_001744157.1:n.3145+7273G>T
XR_926870.2:n.3145+7273G>T
XR_926871.2:n.3013+7273G>T
XR_926872.2:n.3145+7273G>T
NM_138694.4:c.10480C>A MANE Select	NP_619639.3:p.Leu3494Ile