Canonical Allele Identifier: CA364431531

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524059C>T (hg19) ; chr6:g.51659261C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659261C>T , CM000668.2:g.51659261C>T	GRCh38
NC_000006.11:g.51524059C>T , CM000668.1:g.51524059C>T	GRCh37
NC_000006.10:g.51632018C>T	NCBI36
NG_008753.1:g.433365G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10865G>A MANE Select	ENSP00000360158.3:p.Cys3622Tyr
ENST00000371117.7:c.10865G>A	ENSP00000360158.3:p.Cys3622Tyr
NM_138694.3:c.10865G>A	NP_619639.3:p.Cys3622Tyr
XM_011514679.1:c.10865G>A	XP_011512981.1:p.Cys3622Tyr
XM_011514680.1:c.10865G>A	XP_011512982.1:p.Cys3622Tyr
XM_011514681.1:c.10736G>A	XP_011512983.1:p.Cys3579Tyr
XM_011514682.1:c.10727G>A	XP_011512984.1:p.Cys3576Tyr
XM_011514683.1:c.10223G>A	XP_011512985.1:p.Cys3408Tyr
XM_011514684.1:c.10154G>A	XP_011512986.1:p.Cys3385Tyr
XM_011514687.1:c.10157-10041G>A	XP_011512989.1:n.10157-10041G>A
XM_011514690.1:c.4940G>A	XP_011512992.1:p.Cys1647Tyr
XM_011514691.1:c.4940G>A	XP_011512993.1:p.Cys1647Tyr
XR_926870.1:n.535+6888C>T
XR_926871.1:n.403+6888C>T
XR_926872.1:n.535+6888C>T
XM_011514680.3:c.10865G>A	XP_011512982.1:p.Cys3622Tyr
XM_011514682.3:c.10727G>A	XP_011512984.1:p.Cys3576Tyr
XM_011514683.3:c.10223G>A	XP_011512985.1:p.Cys3408Tyr
XM_011514684.3:c.10154G>A	XP_011512986.1:p.Cys3385Tyr
XM_011514690.3:c.4940G>A	XP_011512992.1:p.Cys1647Tyr
XM_011514691.3:c.4940G>A	XP_011512993.1:p.Cys1647Tyr
XM_017010944.2:c.10865G>A	XP_016866433.1:p.Cys3622Tyr
XM_017010945.2:c.10790G>A	XP_016866434.1:p.Cys3597Tyr
XM_017010946.2:c.10670G>A	XP_016866435.1:p.Cys3557Tyr
XM_017010947.2:c.10601G>A	XP_016866436.1:p.Cys3534Tyr
XM_017010948.2:c.10154G>A	XP_016866437.1:p.Cys3385Tyr
XM_017010949.2:c.9005G>A	XP_016866438.1:p.Cys3002Tyr
XR_001743469.1:n.11141G>A
XR_001744157.1:n.3145+6888C>T
XR_926870.2:n.3145+6888C>T
XR_926871.2:n.3013+6888C>T
XR_926872.2:n.3145+6888C>T
NM_138694.4:c.10865G>A MANE Select	NP_619639.3:p.Cys3622Tyr