Canonical Allele Identifier: CA180298

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 167474
• ClinVar RCV Id: RCV000153702 ; RCV000204345 ; RCV001291892 ; RCV001574722
• dbSNP Id: rs139014478
• ExAC: 6:51524409 G / T
• gnomAD v2: 6-51524409-G-T
• gnomAD v3: 6-51659611-G-T
• gnomAD v4: 6-51659611-G-T
• MyVariant Identifiers: chr6:g.51524409G>T (hg19) ; chr6:g.51659611G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659611G>T , CM000668.2:g.51659611G>T	GRCh38
NC_000006.11:g.51524409G>T , CM000668.1:g.51524409G>T	GRCh37
NC_000006.10:g.51632368G>T	NCBI36
NG_008753.1:g.433015C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10515C>A MANE Select	ENSP00000360158.3:p.Ser3505Arg
ENST00000371117.7:c.10515C>A	ENSP00000360158.3:p.Ser3505Arg
NM_138694.3:c.10515C>A	NP_619639.3:p.Ser3505Arg
XM_011514679.1:c.10515C>A	XP_011512981.1:p.Ser3505Arg
XM_011514680.1:c.10515C>A	XP_011512982.1:p.Ser3505Arg
XM_011514681.1:c.10386C>A	XP_011512983.1:p.Ser3462Arg
XM_011514682.1:c.10377C>A	XP_011512984.1:p.Ser3459Arg
XM_011514683.1:c.9873C>A	XP_011512985.1:p.Ser3291Arg
XM_011514684.1:c.9804C>A	XP_011512986.1:p.Ser3268Arg
XM_011514687.1:c.10157-10391C>A	XP_011512989.1:n.10157-10391C>A
XM_011514690.1:c.4590C>A	XP_011512992.1:p.Ser1530Arg
XM_011514691.1:c.4590C>A	XP_011512993.1:p.Ser1530Arg
XR_926870.1:n.535+7238G>T
XR_926871.1:n.403+7238G>T
XR_926872.1:n.535+7238G>T
XM_011514680.3:c.10515C>A	XP_011512982.1:p.Ser3505Arg
XM_011514682.3:c.10377C>A	XP_011512984.1:p.Ser3459Arg
XM_011514683.3:c.9873C>A	XP_011512985.1:p.Ser3291Arg
XM_011514684.3:c.9804C>A	XP_011512986.1:p.Ser3268Arg
XM_011514690.3:c.4590C>A	XP_011512992.1:p.Ser1530Arg
XM_011514691.3:c.4590C>A	XP_011512993.1:p.Ser1530Arg
XM_017010944.2:c.10515C>A	XP_016866433.1:p.Ser3505Arg
XM_017010945.2:c.10440C>A	XP_016866434.1:p.Ser3480Arg
XM_017010946.2:c.10320C>A	XP_016866435.1:p.Ser3440Arg
XM_017010947.2:c.10251C>A	XP_016866436.1:p.Ser3417Arg
XM_017010948.2:c.9804C>A	XP_016866437.1:p.Ser3268Arg
XM_017010949.2:c.8655C>A	XP_016866438.1:p.Ser2885Arg
XR_001743469.1:n.10791C>A
XR_001744157.1:n.3145+7238G>T
XR_926870.2:n.3145+7238G>T
XR_926871.2:n.3013+7238G>T
XR_926872.2:n.3145+7238G>T
NM_138694.4:c.10515C>A MANE Select	NP_619639.3:p.Ser3505Arg