Canonical Allele Identifier: CA138897702

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 2073330
• ClinVar RCV Id: RCV002971801
• dbSNP Id: rs372394177
• gnomAD v2: 6-51524673-G-T
• gnomAD v3: 6-51659875-G-T
• gnomAD v4: 6-51659875-G-T
• MyVariant Identifiers: chr6:g.51524673G>T (hg19) ; chr6:g.51659875G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659875G>T , CM000668.2:g.51659875G>T	GRCh38
NC_000006.11:g.51524673G>T , CM000668.1:g.51524673G>T	GRCh37
NC_000006.10:g.51632632G>T	NCBI36
NG_008753.1:g.432751C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10251C>A MANE Select	ENSP00000360158.3:p.Ser3417Arg
ENST00000371117.7:c.10251C>A	ENSP00000360158.3:p.Ser3417Arg
NM_138694.3:c.10251C>A	NP_619639.3:p.Ser3417Arg
XM_011514679.1:c.10251C>A	XP_011512981.1:p.Ser3417Arg
XM_011514680.1:c.10251C>A	XP_011512982.1:p.Ser3417Arg
XM_011514681.1:c.10122C>A	XP_011512983.1:p.Ser3374Arg
XM_011514682.1:c.10113C>A	XP_011512984.1:p.Ser3371Arg
XM_011514683.1:c.9609C>A	XP_011512985.1:p.Ser3203Arg
XM_011514684.1:c.9540C>A	XP_011512986.1:p.Ser3180Arg
XM_011514687.1:c.10157-10655C>A	XP_011512989.1:n.10157-10655C>A
XM_011514690.1:c.4326C>A	XP_011512992.1:p.Ser1442Arg
XM_011514691.1:c.4326C>A	XP_011512993.1:p.Ser1442Arg
XR_926870.1:n.535+7502G>T
XR_926871.1:n.403+7502G>T
XR_926872.1:n.535+7502G>T
XM_011514680.3:c.10251C>A	XP_011512982.1:p.Ser3417Arg
XM_011514682.3:c.10113C>A	XP_011512984.1:p.Ser3371Arg
XM_011514683.3:c.9609C>A	XP_011512985.1:p.Ser3203Arg
XM_011514684.3:c.9540C>A	XP_011512986.1:p.Ser3180Arg
XM_011514690.3:c.4326C>A	XP_011512992.1:p.Ser1442Arg
XM_011514691.3:c.4326C>A	XP_011512993.1:p.Ser1442Arg
XM_017010944.2:c.10251C>A	XP_016866433.1:p.Ser3417Arg
XM_017010945.2:c.10176C>A	XP_016866434.1:p.Ser3392Arg
XM_017010946.2:c.10056C>A	XP_016866435.1:p.Ser3352Arg
XM_017010947.2:c.9987C>A	XP_016866436.1:p.Ser3329Arg
XM_017010948.2:c.9540C>A	XP_016866437.1:p.Ser3180Arg
XM_017010949.2:c.8391C>A	XP_016866438.1:p.Ser2797Arg
XR_001743469.1:n.10527C>A
XR_001744157.1:n.3145+7502G>T
XR_926870.2:n.3145+7502G>T
XR_926871.2:n.3013+7502G>T
XR_926872.2:n.3145+7502G>T
NM_138694.4:c.10251C>A MANE Select	NP_619639.3:p.Ser3417Arg