Canonical Allele Identifier: CA253013

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 4113
• ClinVar RCV Id: RCV000004329 ; RCV000623522 ; RCV003460425 ; RCV003415648
• dbSNP Id: rs137852948
• gnomAD v2: 6-51524266-A-G
• gnomAD v3: 6-51659468-A-G
• gnomAD v4: 6-51659468-A-G
• MyVariant Identifiers: chr6:g.51524266A>G (hg19) ; chr6:g.51659468A>G (hg38)
• PubMed: PMID:11919560 ; PMID:15698423 ; PMID:15805161 ; PMID:21046169 ; PMID:21896375 ; PMID:23041322 ; PMID:24336431 ; PMID:26385851 ; PMID:28518170 ; PMID:28555180

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659468A>G , CM000668.2:g.51659468A>G	GRCh38
NC_000006.11:g.51524266A>G , CM000668.1:g.51524266A>G	GRCh37
NC_000006.10:g.51632225A>G	NCBI36
NG_008753.1:g.433158T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10658T>C MANE Select	ENSP00000360158.3:p.Ile3553Thr
ENST00000371117.7:c.10658T>C	ENSP00000360158.3:p.Ile3553Thr
NM_138694.3:c.10658T>C	NP_619639.3:p.Ile3553Thr
XM_011514679.1:c.10658T>C	XP_011512981.1:p.Ile3553Thr
XM_011514680.1:c.10658T>C	XP_011512982.1:p.Ile3553Thr
XM_011514681.1:c.10529T>C	XP_011512983.1:p.Ile3510Thr
XM_011514682.1:c.10520T>C	XP_011512984.1:p.Ile3507Thr
XM_011514683.1:c.10016T>C	XP_011512985.1:p.Ile3339Thr
XM_011514684.1:c.9947T>C	XP_011512986.1:p.Ile3316Thr
XM_011514687.1:c.10157-10248T>C	XP_011512989.1:n.10157-10248T>C
XM_011514690.1:c.4733T>C	XP_011512992.1:p.Ile1578Thr
XM_011514691.1:c.4733T>C	XP_011512993.1:p.Ile1578Thr
XR_926870.1:n.535+7095A>G
XR_926871.1:n.403+7095A>G
XR_926872.1:n.535+7095A>G
XM_011514680.3:c.10658T>C	XP_011512982.1:p.Ile3553Thr
XM_011514682.3:c.10520T>C	XP_011512984.1:p.Ile3507Thr
XM_011514683.3:c.10016T>C	XP_011512985.1:p.Ile3339Thr
XM_011514684.3:c.9947T>C	XP_011512986.1:p.Ile3316Thr
XM_011514690.3:c.4733T>C	XP_011512992.1:p.Ile1578Thr
XM_011514691.3:c.4733T>C	XP_011512993.1:p.Ile1578Thr
XM_017010944.2:c.10658T>C	XP_016866433.1:p.Ile3553Thr
XM_017010945.2:c.10583T>C	XP_016866434.1:p.Ile3528Thr
XM_017010946.2:c.10463T>C	XP_016866435.1:p.Ile3488Thr
XM_017010947.2:c.10394T>C	XP_016866436.1:p.Ile3465Thr
XM_017010948.2:c.9947T>C	XP_016866437.1:p.Ile3316Thr
XM_017010949.2:c.8798T>C	XP_016866438.1:p.Ile2933Thr
XR_001743469.1:n.10934T>C
XR_001744157.1:n.3145+7095A>G
XR_926870.2:n.3145+7095A>G
XR_926871.2:n.3013+7095A>G
XR_926872.2:n.3145+7095A>G
NM_138694.4:c.10658T>C MANE Select	NP_619639.3:p.Ile3553Thr