Canonical Allele Identifier: CA3851081
Gene: PKHD1 HGNC NCBI

Linked Data

dbSNP Id: rs141132368
gnomAD v2: 6-51524507-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659709A>C , CM000668.2:g.51659709A>C GRCh38
NC_000006.11:g.51524507A>C , CM000668.1:g.51524507A>C GRCh37
NC_000006.10:g.51632466A>C NCBI36
NG_008753.1:g.432917T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.10417T>G MANE Select ENSP00000360158.3:p.Phe3473Val
ENST00000371117.7:c.10417T>G ENSP00000360158.3:p.Phe3473Val
NM_138694.3:c.10417T>G NP_619639.3:p.Phe3473Val
XM_011514679.1:c.10417T>G XP_011512981.1:p.Phe3473Val
XM_011514680.1:c.10417T>G XP_011512982.1:p.Phe3473Val
XM_011514681.1:c.10288T>G XP_011512983.1:p.Phe3430Val
XM_011514682.1:c.10279T>G XP_011512984.1:p.Phe3427Val
XM_011514683.1:c.9775T>G XP_011512985.1:p.Phe3259Val
XM_011514684.1:c.9706T>G XP_011512986.1:p.Phe3236Val
XM_011514687.1:c.10157-10489T>G XP_011512989.1:n.10157-10489T>G
XM_011514690.1:c.4492T>G XP_011512992.1:p.Phe1498Val
XM_011514691.1:c.4492T>G XP_011512993.1:p.Phe1498Val
XR_926870.1:n.535+7336A>C
XR_926871.1:n.403+7336A>C
XR_926872.1:n.535+7336A>C
XM_011514680.3:c.10417T>G XP_011512982.1:p.Phe3473Val
XM_011514682.3:c.10279T>G XP_011512984.1:p.Phe3427Val
XM_011514683.3:c.9775T>G XP_011512985.1:p.Phe3259Val
XM_011514684.3:c.9706T>G XP_011512986.1:p.Phe3236Val
XM_011514690.3:c.4492T>G XP_011512992.1:p.Phe1498Val
XM_011514691.3:c.4492T>G XP_011512993.1:p.Phe1498Val
XM_017010944.2:c.10417T>G XP_016866433.1:p.Phe3473Val
XM_017010945.2:c.10342T>G XP_016866434.1:p.Phe3448Val
XM_017010946.2:c.10222T>G XP_016866435.1:p.Phe3408Val
XM_017010947.2:c.10153T>G XP_016866436.1:p.Phe3385Val
XM_017010948.2:c.9706T>G XP_016866437.1:p.Phe3236Val
XM_017010949.2:c.8557T>G XP_016866438.1:p.Phe2853Val
XR_001743469.1:n.10693T>G
XR_001744157.1:n.3145+7336A>C
XR_926870.2:n.3145+7336A>C
XR_926871.2:n.3013+7336A>C
XR_926872.2:n.3145+7336A>C
NM_138694.4:c.10417T>G MANE Select NP_619639.3:p.Phe3473Val