Canonical Allele Identifier: CA364436555
Gene: PKHD1 HGNC NCBI

Linked Data

dbSNP Id: rs1772535466
gnomAD v3: 6-51659828-A-G
gnomAD v4: 6-51659828-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659828A>G , CM000668.2:g.51659828A>G GRCh38
NC_000006.11:g.51524626A>G , CM000668.1:g.51524626A>G GRCh37
NC_000006.10:g.51632585A>G NCBI36
NG_008753.1:g.432798T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.10298T>C MANE Select ENSP00000360158.3:p.Val3433Ala
ENST00000371117.7:c.10298T>C ENSP00000360158.3:p.Val3433Ala
NM_138694.3:c.10298T>C NP_619639.3:p.Val3433Ala
XM_011514679.1:c.10298T>C XP_011512981.1:p.Val3433Ala
XM_011514680.1:c.10298T>C XP_011512982.1:p.Val3433Ala
XM_011514681.1:c.10169T>C XP_011512983.1:p.Val3390Ala
XM_011514682.1:c.10160T>C XP_011512984.1:p.Val3387Ala
XM_011514683.1:c.9656T>C XP_011512985.1:p.Val3219Ala
XM_011514684.1:c.9587T>C XP_011512986.1:p.Val3196Ala
XM_011514687.1:c.10157-10608T>C XP_011512989.1:n.10157-10608T>C
XM_011514690.1:c.4373T>C XP_011512992.1:p.Val1458Ala
XM_011514691.1:c.4373T>C XP_011512993.1:p.Val1458Ala
XR_926870.1:n.535+7455A>G
XR_926871.1:n.403+7455A>G
XR_926872.1:n.535+7455A>G
XM_011514680.3:c.10298T>C XP_011512982.1:p.Val3433Ala
XM_011514682.3:c.10160T>C XP_011512984.1:p.Val3387Ala
XM_011514683.3:c.9656T>C XP_011512985.1:p.Val3219Ala
XM_011514684.3:c.9587T>C XP_011512986.1:p.Val3196Ala
XM_011514690.3:c.4373T>C XP_011512992.1:p.Val1458Ala
XM_011514691.3:c.4373T>C XP_011512993.1:p.Val1458Ala
XM_017010944.2:c.10298T>C XP_016866433.1:p.Val3433Ala
XM_017010945.2:c.10223T>C XP_016866434.1:p.Val3408Ala
XM_017010946.2:c.10103T>C XP_016866435.1:p.Val3368Ala
XM_017010947.2:c.10034T>C XP_016866436.1:p.Val3345Ala
XM_017010948.2:c.9587T>C XP_016866437.1:p.Val3196Ala
XM_017010949.2:c.8438T>C XP_016866438.1:p.Val2813Ala
XR_001743469.1:n.10574T>C
XR_001744157.1:n.3145+7455A>G
XR_926870.2:n.3145+7455A>G
XR_926871.2:n.3013+7455A>G
XR_926872.2:n.3145+7455A>G
NM_138694.4:c.10298T>C MANE Select NP_619639.3:p.Val3433Ala