Canonical Allele Identifier: CA364435034

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 648045
• ClinVar RCV Id: RCV000802685 ; RCV002495082
• dbSNP Id: rs1581894231
• gnomAD v4: 6-51659663-T-C
• MyVariant Identifiers: chr6:g.51524461T>C (hg19) ; chr6:g.51659663T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659663T>C , CM000668.2:g.51659663T>C	GRCh38
NC_000006.11:g.51524461T>C , CM000668.1:g.51524461T>C	GRCh37
NC_000006.10:g.51632420T>C	NCBI36
NG_008753.1:g.432963A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10463A>G MANE Select	ENSP00000360158.3:p.Asn3488Ser
ENST00000371117.7:c.10463A>G	ENSP00000360158.3:p.Asn3488Ser
NM_138694.3:c.10463A>G	NP_619639.3:p.Asn3488Ser
XM_011514679.1:c.10463A>G	XP_011512981.1:p.Asn3488Ser
XM_011514680.1:c.10463A>G	XP_011512982.1:p.Asn3488Ser
XM_011514681.1:c.10334A>G	XP_011512983.1:p.Asn3445Ser
XM_011514682.1:c.10325A>G	XP_011512984.1:p.Asn3442Ser
XM_011514683.1:c.9821A>G	XP_011512985.1:p.Asn3274Ser
XM_011514684.1:c.9752A>G	XP_011512986.1:p.Asn3251Ser
XM_011514687.1:c.10157-10443A>G	XP_011512989.1:n.10157-10443A>G
XM_011514690.1:c.4538A>G	XP_011512992.1:p.Asn1513Ser
XM_011514691.1:c.4538A>G	XP_011512993.1:p.Asn1513Ser
XR_926870.1:n.535+7290T>C
XR_926871.1:n.403+7290T>C
XR_926872.1:n.535+7290T>C
XM_011514680.3:c.10463A>G	XP_011512982.1:p.Asn3488Ser
XM_011514682.3:c.10325A>G	XP_011512984.1:p.Asn3442Ser
XM_011514683.3:c.9821A>G	XP_011512985.1:p.Asn3274Ser
XM_011514684.3:c.9752A>G	XP_011512986.1:p.Asn3251Ser
XM_011514690.3:c.4538A>G	XP_011512992.1:p.Asn1513Ser
XM_011514691.3:c.4538A>G	XP_011512993.1:p.Asn1513Ser
XM_017010944.2:c.10463A>G	XP_016866433.1:p.Asn3488Ser
XM_017010945.2:c.10388A>G	XP_016866434.1:p.Asn3463Ser
XM_017010946.2:c.10268A>G	XP_016866435.1:p.Asn3423Ser
XM_017010947.2:c.10199A>G	XP_016866436.1:p.Asn3400Ser
XM_017010948.2:c.9752A>G	XP_016866437.1:p.Asn3251Ser
XM_017010949.2:c.8603A>G	XP_016866438.1:p.Asn2868Ser
XR_001743469.1:n.10739A>G
XR_001744157.1:n.3145+7290T>C
XR_926870.2:n.3145+7290T>C
XR_926871.2:n.3013+7290T>C
XR_926872.2:n.3145+7290T>C
NM_138694.4:c.10463A>G MANE Select	NP_619639.3:p.Asn3488Ser