Canonical Allele Identifier: CA3852656
Gene: PKHD1 HGNC NCBI

Linked Data

dbSNP Id: rs143322944
gnomAD v2: 6-51889756-T-A
gnomAD v3: 6-52024958-T-A
gnomAD v4: 6-52024958-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52024958T>A , CM000668.2:g.52024958T>A GRCh38
NC_000006.11:g.51889756T>A , CM000668.1:g.51889756T>A GRCh37
NC_000006.10:g.51997715T>A NCBI36
NG_008753.1:g.67668A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.4852A>T MANE Select ENSP00000360158.3:p.Ile1618Phe
ENST00000340994.4:c.4852A>T ENSP00000341097.4:p.Ile1618Phe
ENST00000371117.7:c.4852A>T ENSP00000360158.3:p.Ile1618Phe
NM_138694.3:c.4852A>T NP_619639.3:p.Ile1618Phe
NM_170724.2:c.4852A>T NP_733842.2:p.Ile1618Phe
XM_011514679.1:c.4852A>T XP_011512981.1:p.Ile1618Phe
XM_011514680.1:c.4852A>T XP_011512982.1:p.Ile1618Phe
XM_011514681.1:c.4852A>T XP_011512983.1:p.Ile1618Phe
XM_011514682.1:c.4852A>T XP_011512984.1:p.Ile1618Phe
XM_011514683.1:c.4210A>T XP_011512985.1:p.Ile1404Phe
XM_011514684.1:c.4141A>T XP_011512986.1:p.Ile1381Phe
XM_011514685.1:c.4852A>T XP_011512987.1:p.Ile1618Phe
XM_011514686.1:c.4852A>T XP_011512988.1:p.Ile1618Phe
XM_011514687.1:c.4852A>T XP_011512989.1:p.Ile1618Phe
XM_011514688.1:c.4852A>T XP_011512990.1:p.Ile1618Phe
XM_011514689.1:c.4852A>T XP_011512991.1:p.Ile1618Phe
XM_011514680.3:c.4852A>T XP_011512982.1:p.Ile1618Phe
XM_011514682.3:c.4852A>T XP_011512984.1:p.Ile1618Phe
XM_011514683.3:c.4210A>T XP_011512985.1:p.Ile1404Phe
XM_011514684.3:c.4141A>T XP_011512986.1:p.Ile1381Phe
XM_011514686.2:c.4852A>T XP_011512988.1:p.Ile1618Phe
XM_011514688.2:c.4852A>T XP_011512990.1:p.Ile1618Phe
XM_017010944.2:c.4852A>T XP_016866433.1:p.Ile1618Phe
XM_017010945.2:c.4777A>T XP_016866434.1:p.Ile1593Phe
XM_017010946.2:c.4852A>T XP_016866435.1:p.Ile1618Phe
XM_017010947.2:c.4588A>T XP_016866436.1:p.Ile1530Phe
XM_017010948.2:c.4141A>T XP_016866437.1:p.Ile1381Phe
XM_017010949.2:c.2992A>T XP_016866438.1:p.Ile998Phe
XM_017010950.1:c.4852A>T XP_016866439.1:p.Ile1618Phe
XM_017010951.1:c.4852A>T XP_016866440.1:p.Ile1618Phe
XM_017010952.1:c.4852A>T XP_016866441.1:p.Ile1618Phe
XR_001743469.1:n.5128A>T
NM_138694.4:c.4852A>T MANE Select NP_619639.3:p.Ile1618Phe
NM_170724.3:c.4852A>T NP_733842.2:p.Ile1618Phe