Canonical Allele Identifier: CA3851099
Gene: PKHD1 HGNC NCBI

Linked Data

dbSNP Id: rs766947153
gnomAD v2: 6-51524596-C-G
gnomAD v4: 6-51659798-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659798C>G , CM000668.2:g.51659798C>G GRCh38
NC_000006.11:g.51524596C>G , CM000668.1:g.51524596C>G GRCh37
NC_000006.10:g.51632555C>G NCBI36
NG_008753.1:g.432828G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.10328G>C MANE Select ENSP00000360158.3:p.Ser3443Thr
ENST00000371117.7:c.10328G>C ENSP00000360158.3:p.Ser3443Thr
NM_138694.3:c.10328G>C NP_619639.3:p.Ser3443Thr
XM_011514679.1:c.10328G>C XP_011512981.1:p.Ser3443Thr
XM_011514680.1:c.10328G>C XP_011512982.1:p.Ser3443Thr
XM_011514681.1:c.10199G>C XP_011512983.1:p.Ser3400Thr
XM_011514682.1:c.10190G>C XP_011512984.1:p.Ser3397Thr
XM_011514683.1:c.9686G>C XP_011512985.1:p.Ser3229Thr
XM_011514684.1:c.9617G>C XP_011512986.1:p.Ser3206Thr
XM_011514687.1:c.10157-10578G>C XP_011512989.1:n.10157-10578G>C
XM_011514690.1:c.4403G>C XP_011512992.1:p.Ser1468Thr
XM_011514691.1:c.4403G>C XP_011512993.1:p.Ser1468Thr
XR_926870.1:n.535+7425C>G
XR_926871.1:n.403+7425C>G
XR_926872.1:n.535+7425C>G
XM_011514680.3:c.10328G>C XP_011512982.1:p.Ser3443Thr
XM_011514682.3:c.10190G>C XP_011512984.1:p.Ser3397Thr
XM_011514683.3:c.9686G>C XP_011512985.1:p.Ser3229Thr
XM_011514684.3:c.9617G>C XP_011512986.1:p.Ser3206Thr
XM_011514690.3:c.4403G>C XP_011512992.1:p.Ser1468Thr
XM_011514691.3:c.4403G>C XP_011512993.1:p.Ser1468Thr
XM_017010944.2:c.10328G>C XP_016866433.1:p.Ser3443Thr
XM_017010945.2:c.10253G>C XP_016866434.1:p.Ser3418Thr
XM_017010946.2:c.10133G>C XP_016866435.1:p.Ser3378Thr
XM_017010947.2:c.10064G>C XP_016866436.1:p.Ser3355Thr
XM_017010948.2:c.9617G>C XP_016866437.1:p.Ser3206Thr
XM_017010949.2:c.8468G>C XP_016866438.1:p.Ser2823Thr
XR_001743469.1:n.10604G>C
XR_001744157.1:n.3145+7425C>G
XR_926870.2:n.3145+7425C>G
XR_926871.2:n.3013+7425C>G
XR_926872.2:n.3145+7425C>G
NM_138694.4:c.10328G>C MANE Select NP_619639.3:p.Ser3443Thr