Canonical Allele Identifier: CA138897443
Gene: PKHD1 HGNC NCBI

Linked Data

dbSNP Id: rs754598286
gnomAD v2: 6-51524432-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659634C>A , CM000668.2:g.51659634C>A GRCh38
NC_000006.11:g.51524432C>A , CM000668.1:g.51524432C>A GRCh37
NC_000006.10:g.51632391C>A NCBI36
NG_008753.1:g.432992G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.10492G>T MANE Select ENSP00000360158.3:p.Val3498Leu
ENST00000371117.7:c.10492G>T ENSP00000360158.3:p.Val3498Leu
NM_138694.3:c.10492G>T NP_619639.3:p.Val3498Leu
XM_011514679.1:c.10492G>T XP_011512981.1:p.Val3498Leu
XM_011514680.1:c.10492G>T XP_011512982.1:p.Val3498Leu
XM_011514681.1:c.10363G>T XP_011512983.1:p.Val3455Leu
XM_011514682.1:c.10354G>T XP_011512984.1:p.Val3452Leu
XM_011514683.1:c.9850G>T XP_011512985.1:p.Val3284Leu
XM_011514684.1:c.9781G>T XP_011512986.1:p.Val3261Leu
XM_011514687.1:c.10157-10414G>T XP_011512989.1:n.10157-10414G>T
XM_011514690.1:c.4567G>T XP_011512992.1:p.Val1523Leu
XM_011514691.1:c.4567G>T XP_011512993.1:p.Val1523Leu
XR_926870.1:n.535+7261C>A
XR_926871.1:n.403+7261C>A
XR_926872.1:n.535+7261C>A
XM_011514680.3:c.10492G>T XP_011512982.1:p.Val3498Leu
XM_011514682.3:c.10354G>T XP_011512984.1:p.Val3452Leu
XM_011514683.3:c.9850G>T XP_011512985.1:p.Val3284Leu
XM_011514684.3:c.9781G>T XP_011512986.1:p.Val3261Leu
XM_011514690.3:c.4567G>T XP_011512992.1:p.Val1523Leu
XM_011514691.3:c.4567G>T XP_011512993.1:p.Val1523Leu
XM_017010944.2:c.10492G>T XP_016866433.1:p.Val3498Leu
XM_017010945.2:c.10417G>T XP_016866434.1:p.Val3473Leu
XM_017010946.2:c.10297G>T XP_016866435.1:p.Val3433Leu
XM_017010947.2:c.10228G>T XP_016866436.1:p.Val3410Leu
XM_017010948.2:c.9781G>T XP_016866437.1:p.Val3261Leu
XM_017010949.2:c.8632G>T XP_016866438.1:p.Val2878Leu
XR_001743469.1:n.10768G>T
XR_001744157.1:n.3145+7261C>A
XR_926870.2:n.3145+7261C>A
XR_926871.2:n.3013+7261C>A
XR_926872.2:n.3145+7261C>A
NM_138694.4:c.10492G>T MANE Select NP_619639.3:p.Val3498Leu