Canonical Allele Identifier: CA364434586

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 553147
• ClinVar RCV Id: RCV000668531
• dbSNP Id: rs1554183496
• MyVariant Identifiers: chr6:g.51524419T>A (hg19) ; chr6:g.51659621T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659621T>A , CM000668.2:g.51659621T>A	GRCh38
NC_000006.11:g.51524419T>A , CM000668.1:g.51524419T>A	GRCh37
NC_000006.10:g.51632378T>A	NCBI36
NG_008753.1:g.433005A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.10505A>T MANE Select	ENSP00000360158.3:p.Glu3502Val
ENST00000371117.7:c.10505A>T	ENSP00000360158.3:p.Glu3502Val
NM_138694.3:c.10505A>T	NP_619639.3:p.Glu3502Val
XM_011514679.1:c.10505A>T	XP_011512981.1:p.Glu3502Val
XM_011514680.1:c.10505A>T	XP_011512982.1:p.Glu3502Val
XM_011514681.1:c.10376A>T	XP_011512983.1:p.Glu3459Val
XM_011514682.1:c.10367A>T	XP_011512984.1:p.Glu3456Val
XM_011514683.1:c.9863A>T	XP_011512985.1:p.Glu3288Val
XM_011514684.1:c.9794A>T	XP_011512986.1:p.Glu3265Val
XM_011514687.1:c.10157-10401A>T	XP_011512989.1:n.10157-10401A>T
XM_011514690.1:c.4580A>T	XP_011512992.1:p.Glu1527Val
XM_011514691.1:c.4580A>T	XP_011512993.1:p.Glu1527Val
XR_926870.1:n.535+7248T>A
XR_926871.1:n.403+7248T>A
XR_926872.1:n.535+7248T>A
XM_011514680.3:c.10505A>T	XP_011512982.1:p.Glu3502Val
XM_011514682.3:c.10367A>T	XP_011512984.1:p.Glu3456Val
XM_011514683.3:c.9863A>T	XP_011512985.1:p.Glu3288Val
XM_011514684.3:c.9794A>T	XP_011512986.1:p.Glu3265Val
XM_011514690.3:c.4580A>T	XP_011512992.1:p.Glu1527Val
XM_011514691.3:c.4580A>T	XP_011512993.1:p.Glu1527Val
XM_017010944.2:c.10505A>T	XP_016866433.1:p.Glu3502Val
XM_017010945.2:c.10430A>T	XP_016866434.1:p.Glu3477Val
XM_017010946.2:c.10310A>T	XP_016866435.1:p.Glu3437Val
XM_017010947.2:c.10241A>T	XP_016866436.1:p.Glu3414Val
XM_017010948.2:c.9794A>T	XP_016866437.1:p.Glu3265Val
XM_017010949.2:c.8645A>T	XP_016866438.1:p.Glu2882Val
XR_001743469.1:n.10781A>T
XR_001744157.1:n.3145+7248T>A
XR_926870.2:n.3145+7248T>A
XR_926871.2:n.3013+7248T>A
XR_926872.2:n.3145+7248T>A
NM_138694.4:c.10505A>T MANE Select	NP_619639.3:p.Glu3502Val