Canonical Allele Identifier: CA1628469784
Gene: PKHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51627057T= , CM000668.2:g.51627057T= GRCh38
NC_000006.11:g.51491855T= , CM000668.1:g.51491855T= GRCh37
NC_000006.10:g.51599814T= NCBI36
NG_008753.1:g.465569A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.11725A= MANE Select ENSP00000360158.3:p.Ile3909=
ENST00000371117.7:c.11725A= ENSP00000360158.3:p.Ile3909=
NM_138694.3:c.11725A= NP_619639.3:p.Ile3909=
XM_011514679.1:c.11725A= XP_011512981.1:p.Ile3909=
XM_011514680.1:c.11725A= XP_011512982.1:p.Ile3909=
XM_011514681.1:c.11596A= XP_011512983.1:p.Ile3866=
XM_011514682.1:c.11587A= XP_011512984.1:p.Ile3863=
XM_011514683.1:c.11083A= XP_011512985.1:p.Ile3695=
XM_011514684.1:c.11014A= XP_011512986.1:p.Ile3672=
XM_011514690.1:c.5800A= XP_011512992.1:p.Ile1934=
XM_011514691.1:c.5800A= XP_011512993.1:p.Ile1934=
XM_011514680.3:c.11725A= XP_011512982.1:p.Ile3909=
XM_011514682.3:c.11587A= XP_011512984.1:p.Ile3863=
XM_011514683.3:c.11083A= XP_011512985.1:p.Ile3695=
XM_011514684.3:c.11014A= XP_011512986.1:p.Ile3672=
XM_011514690.3:c.5800A= XP_011512992.1:p.Ile1934=
XM_011514691.3:c.5800A= XP_011512993.1:p.Ile1934=
XM_017010944.2:c.11725A= XP_016866433.1:p.Ile3909=
XM_017010945.2:c.11650A= XP_016866434.1:p.Ile3884=
XM_017010946.2:c.11530A= XP_016866435.1:p.Ile3844=
XM_017010947.2:c.11461A= XP_016866436.1:p.Ile3821=
XM_017010948.2:c.11014A= XP_016866437.1:p.Ile3672=
XM_017010949.2:c.9865A= XP_016866438.1:p.Ile3289=
NM_138694.4:c.11725A= MANE Select NP_619639.3:p.Ile3909=