Canonical Allele Identifier: CA3851075

Gene: PKHD1

Linked Data

• dbSNP Id: rs775481784
• ExAC: 6:51524460 G / T
• gnomAD v2: 6-51524460-G-T
• gnomAD v4: 6-51659662-G-T
• MyVariant Identifiers: chr6:g.51524460G>T (hg19) ; chr6:g.51659662G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659662G>T , CM000668.2:g.51659662G>T	GRCh38
NC_000006.11:g.51524460G>T , CM000668.1:g.51524460G>T	GRCh37
NC_000006.10:g.51632419G>T	NCBI36
NG_008753.1:g.432964C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10464C>A MANE Select	ENSP00000360158.3:p.Asn3488Lys
ENST00000371117.7:c.10464C>A	ENSP00000360158.3:p.Asn3488Lys
NM_138694.3:c.10464C>A	NP_619639.3:p.Asn3488Lys
XM_011514679.1:c.10464C>A	XP_011512981.1:p.Asn3488Lys
XM_011514680.1:c.10464C>A	XP_011512982.1:p.Asn3488Lys
XM_011514681.1:c.10335C>A	XP_011512983.1:p.Asn3445Lys
XM_011514682.1:c.10326C>A	XP_011512984.1:p.Asn3442Lys
XM_011514683.1:c.9822C>A	XP_011512985.1:p.Asn3274Lys
XM_011514684.1:c.9753C>A	XP_011512986.1:p.Asn3251Lys
XM_011514687.1:c.10157-10442C>A	XP_011512989.1:n.10157-10442C>A
XM_011514690.1:c.4539C>A	XP_011512992.1:p.Asn1513Lys
XM_011514691.1:c.4539C>A	XP_011512993.1:p.Asn1513Lys
XR_926870.1:n.535+7289G>T
XR_926871.1:n.403+7289G>T
XR_926872.1:n.535+7289G>T
XM_011514680.3:c.10464C>A	XP_011512982.1:p.Asn3488Lys
XM_011514682.3:c.10326C>A	XP_011512984.1:p.Asn3442Lys
XM_011514683.3:c.9822C>A	XP_011512985.1:p.Asn3274Lys
XM_011514684.3:c.9753C>A	XP_011512986.1:p.Asn3251Lys
XM_011514690.3:c.4539C>A	XP_011512992.1:p.Asn1513Lys
XM_011514691.3:c.4539C>A	XP_011512993.1:p.Asn1513Lys
XM_017010944.2:c.10464C>A	XP_016866433.1:p.Asn3488Lys
XM_017010945.2:c.10389C>A	XP_016866434.1:p.Asn3463Lys
XM_017010946.2:c.10269C>A	XP_016866435.1:p.Asn3423Lys
XM_017010947.2:c.10200C>A	XP_016866436.1:p.Asn3400Lys
XM_017010948.2:c.9753C>A	XP_016866437.1:p.Asn3251Lys
XM_017010949.2:c.8604C>A	XP_016866438.1:p.Asn2868Lys
XR_001743469.1:n.10740C>A
XR_001744157.1:n.3145+7289G>T
XR_926870.2:n.3145+7289G>T
XR_926871.2:n.3013+7289G>T
XR_926872.2:n.3145+7289G>T
NM_138694.4:c.10464C>A MANE Select	NP_619639.3:p.Asn3488Lys