Canonical Allele Identifier: CA364437544
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1683398
dbSNP Id: rs1772559884

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659945C>T , CM000668.2:g.51659945C>T GRCh38
NC_000006.11:g.51524743C>T , CM000668.1:g.51524743C>T GRCh37
NC_000006.10:g.51632702C>T NCBI36
NG_008753.1:g.432681G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.10181G>A MANE Select ENSP00000360158.3:p.Cys3394Tyr
ENST00000371117.7:c.10181G>A ENSP00000360158.3:p.Cys3394Tyr
NM_138694.3:c.10181G>A NP_619639.3:p.Cys3394Tyr
XM_011514679.1:c.10181G>A XP_011512981.1:p.Cys3394Tyr
XM_011514680.1:c.10181G>A XP_011512982.1:p.Cys3394Tyr
XM_011514681.1:c.10052G>A XP_011512983.1:p.Cys3351Tyr
XM_011514682.1:c.10043G>A XP_011512984.1:p.Cys3348Tyr
XM_011514683.1:c.9539G>A XP_011512985.1:p.Cys3180Tyr
XM_011514684.1:c.9470G>A XP_011512986.1:p.Cys3157Tyr
XM_011514687.1:c.10157-10725G>A XP_011512989.1:n.10157-10725G>A
XM_011514690.1:c.4256G>A XP_011512992.1:p.Cys1419Tyr
XM_011514691.1:c.4256G>A XP_011512993.1:p.Cys1419Tyr
XR_926870.1:n.535+7572C>T
XR_926871.1:n.403+7572C>T
XR_926872.1:n.535+7572C>T
XM_011514680.3:c.10181G>A XP_011512982.1:p.Cys3394Tyr
XM_011514682.3:c.10043G>A XP_011512984.1:p.Cys3348Tyr
XM_011514683.3:c.9539G>A XP_011512985.1:p.Cys3180Tyr
XM_011514684.3:c.9470G>A XP_011512986.1:p.Cys3157Tyr
XM_011514690.3:c.4256G>A XP_011512992.1:p.Cys1419Tyr
XM_011514691.3:c.4256G>A XP_011512993.1:p.Cys1419Tyr
XM_017010944.2:c.10181G>A XP_016866433.1:p.Cys3394Tyr
XM_017010945.2:c.10106G>A XP_016866434.1:p.Cys3369Tyr
XM_017010946.2:c.9986G>A XP_016866435.1:p.Cys3329Tyr
XM_017010947.2:c.9917G>A XP_016866436.1:p.Cys3306Tyr
XM_017010948.2:c.9470G>A XP_016866437.1:p.Cys3157Tyr
XM_017010949.2:c.8321G>A XP_016866438.1:p.Cys2774Tyr
XR_001743469.1:n.10457G>A
XR_001744157.1:n.3145+7572C>T
XR_926870.2:n.3145+7572C>T
XR_926871.2:n.3013+7572C>T
XR_926872.2:n.3145+7572C>T
NM_138694.4:c.10181G>A MANE Select NP_619639.3:p.Cys3394Tyr