Canonical Allele Identifier: CA138897053
Gene: PKHD1 HGNC NCBI

Linked Data

dbSNP Id: rs374441065
gnomAD v4: 6-51659226-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659226C>T , CM000668.2:g.51659226C>T GRCh38
NC_000006.11:g.51524024C>T , CM000668.1:g.51524024C>T GRCh37
NC_000006.10:g.51631983C>T NCBI36
NG_008753.1:g.433400G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.10900G>A MANE Select ENSP00000360158.3:p.Val3634Ile
ENST00000371117.7:c.10900G>A ENSP00000360158.3:p.Val3634Ile
NM_138694.3:c.10900G>A NP_619639.3:p.Val3634Ile
XM_011514679.1:c.10900G>A XP_011512981.1:p.Val3634Ile
XM_011514680.1:c.10900G>A XP_011512982.1:p.Val3634Ile
XM_011514681.1:c.10771G>A XP_011512983.1:p.Val3591Ile
XM_011514682.1:c.10762G>A XP_011512984.1:p.Val3588Ile
XM_011514683.1:c.10258G>A XP_011512985.1:p.Val3420Ile
XM_011514684.1:c.10189G>A XP_011512986.1:p.Val3397Ile
XM_011514687.1:c.10157-10006G>A XP_011512989.1:n.10157-10006G>A
XM_011514690.1:c.4975G>A XP_011512992.1:p.Val1659Ile
XM_011514691.1:c.4975G>A XP_011512993.1:p.Val1659Ile
XR_926870.1:n.535+6853C>T
XR_926871.1:n.403+6853C>T
XR_926872.1:n.535+6853C>T
XM_011514680.3:c.10900G>A XP_011512982.1:p.Val3634Ile
XM_011514682.3:c.10762G>A XP_011512984.1:p.Val3588Ile
XM_011514683.3:c.10258G>A XP_011512985.1:p.Val3420Ile
XM_011514684.3:c.10189G>A XP_011512986.1:p.Val3397Ile
XM_011514690.3:c.4975G>A XP_011512992.1:p.Val1659Ile
XM_011514691.3:c.4975G>A XP_011512993.1:p.Val1659Ile
XM_017010944.2:c.10900G>A XP_016866433.1:p.Val3634Ile
XM_017010945.2:c.10825G>A XP_016866434.1:p.Val3609Ile
XM_017010946.2:c.10705G>A XP_016866435.1:p.Val3569Ile
XM_017010947.2:c.10636G>A XP_016866436.1:p.Val3546Ile
XM_017010948.2:c.10189G>A XP_016866437.1:p.Val3397Ile
XM_017010949.2:c.9040G>A XP_016866438.1:p.Val3014Ile
XR_001743469.1:n.11176G>A
XR_001744157.1:n.3145+6853C>T
XR_926870.2:n.3145+6853C>T
XR_926871.2:n.3013+6853C>T
XR_926872.2:n.3145+6853C>T
NM_138694.4:c.10900G>A MANE Select NP_619639.3:p.Val3634Ile