Canonical Allele Identifier: CA364437251
Gene: PKHD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659908T>G , CM000668.2:g.51659908T>G GRCh38
NC_000006.11:g.51524706T>G , CM000668.1:g.51524706T>G GRCh37
NC_000006.10:g.51632665T>G NCBI36
NG_008753.1:g.432718A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.10218A>C MANE Select ENSP00000360158.3:p.Lys3406Asn
ENST00000371117.7:c.10218A>C ENSP00000360158.3:p.Lys3406Asn
NM_138694.3:c.10218A>C NP_619639.3:p.Lys3406Asn
XM_011514679.1:c.10218A>C XP_011512981.1:p.Lys3406Asn
XM_011514680.1:c.10218A>C XP_011512982.1:p.Lys3406Asn
XM_011514681.1:c.10089A>C XP_011512983.1:p.Lys3363Asn
XM_011514682.1:c.10080A>C XP_011512984.1:p.Lys3360Asn
XM_011514683.1:c.9576A>C XP_011512985.1:p.Lys3192Asn
XM_011514684.1:c.9507A>C XP_011512986.1:p.Lys3169Asn
XM_011514687.1:c.10157-10688A>C XP_011512989.1:n.10157-10688A>C
XM_011514690.1:c.4293A>C XP_011512992.1:p.Lys1431Asn
XM_011514691.1:c.4293A>C XP_011512993.1:p.Lys1431Asn
XR_926870.1:n.535+7535T>G
XR_926871.1:n.403+7535T>G
XR_926872.1:n.535+7535T>G
XM_011514680.3:c.10218A>C XP_011512982.1:p.Lys3406Asn
XM_011514682.3:c.10080A>C XP_011512984.1:p.Lys3360Asn
XM_011514683.3:c.9576A>C XP_011512985.1:p.Lys3192Asn
XM_011514684.3:c.9507A>C XP_011512986.1:p.Lys3169Asn
XM_011514690.3:c.4293A>C XP_011512992.1:p.Lys1431Asn
XM_011514691.3:c.4293A>C XP_011512993.1:p.Lys1431Asn
XM_017010944.2:c.10218A>C XP_016866433.1:p.Lys3406Asn
XM_017010945.2:c.10143A>C XP_016866434.1:p.Lys3381Asn
XM_017010946.2:c.10023A>C XP_016866435.1:p.Lys3341Asn
XM_017010947.2:c.9954A>C XP_016866436.1:p.Lys3318Asn
XM_017010948.2:c.9507A>C XP_016866437.1:p.Lys3169Asn
XM_017010949.2:c.8358A>C XP_016866438.1:p.Lys2786Asn
XR_001743469.1:n.10494A>C
XR_001744157.1:n.3145+7535T>G
XR_926870.2:n.3145+7535T>G
XR_926871.2:n.3013+7535T>G
XR_926872.2:n.3145+7535T>G
NM_138694.4:c.10218A>C MANE Select NP_619639.3:p.Lys3406Asn