Canonical Allele Identifier: CA364436846

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524660A>T (hg19) ; chr6:g.51659862A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659862A>T , CM000668.2:g.51659862A>T	GRCh38
NC_000006.11:g.51524660A>T , CM000668.1:g.51524660A>T	GRCh37
NC_000006.10:g.51632619A>T	NCBI36
NG_008753.1:g.432764T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10264T>A MANE Select	ENSP00000360158.3:p.Trp3422Arg
ENST00000371117.7:c.10264T>A	ENSP00000360158.3:p.Trp3422Arg
NM_138694.3:c.10264T>A	NP_619639.3:p.Trp3422Arg
XM_011514679.1:c.10264T>A	XP_011512981.1:p.Trp3422Arg
XM_011514680.1:c.10264T>A	XP_011512982.1:p.Trp3422Arg
XM_011514681.1:c.10135T>A	XP_011512983.1:p.Trp3379Arg
XM_011514682.1:c.10126T>A	XP_011512984.1:p.Trp3376Arg
XM_011514683.1:c.9622T>A	XP_011512985.1:p.Trp3208Arg
XM_011514684.1:c.9553T>A	XP_011512986.1:p.Trp3185Arg
XM_011514687.1:c.10157-10642T>A	XP_011512989.1:n.10157-10642T>A
XM_011514690.1:c.4339T>A	XP_011512992.1:p.Trp1447Arg
XM_011514691.1:c.4339T>A	XP_011512993.1:p.Trp1447Arg
XR_926870.1:n.535+7489A>T
XR_926871.1:n.403+7489A>T
XR_926872.1:n.535+7489A>T
XM_011514680.3:c.10264T>A	XP_011512982.1:p.Trp3422Arg
XM_011514682.3:c.10126T>A	XP_011512984.1:p.Trp3376Arg
XM_011514683.3:c.9622T>A	XP_011512985.1:p.Trp3208Arg
XM_011514684.3:c.9553T>A	XP_011512986.1:p.Trp3185Arg
XM_011514690.3:c.4339T>A	XP_011512992.1:p.Trp1447Arg
XM_011514691.3:c.4339T>A	XP_011512993.1:p.Trp1447Arg
XM_017010944.2:c.10264T>A	XP_016866433.1:p.Trp3422Arg
XM_017010945.2:c.10189T>A	XP_016866434.1:p.Trp3397Arg
XM_017010946.2:c.10069T>A	XP_016866435.1:p.Trp3357Arg
XM_017010947.2:c.10000T>A	XP_016866436.1:p.Trp3334Arg
XM_017010948.2:c.9553T>A	XP_016866437.1:p.Trp3185Arg
XM_017010949.2:c.8404T>A	XP_016866438.1:p.Trp2802Arg
XR_001743469.1:n.10540T>A
XR_001744157.1:n.3145+7489A>T
XR_926870.2:n.3145+7489A>T
XR_926871.2:n.3013+7489A>T
XR_926872.2:n.3145+7489A>T
NM_138694.4:c.10264T>A MANE Select	NP_619639.3:p.Trp3422Arg