Canonical Allele Identifier: CA1628502541
Gene: PKHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51748112C= , CM000668.2:g.51748112C= GRCh38
NC_000006.11:g.51612910C= , CM000668.1:g.51612910C= GRCh37
NC_000006.10:g.51720869C= NCBI36
NG_008753.1:g.344514G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.9504G= MANE Select ENSP00000360158.3:p.Glu3168=
ENST00000340994.4:c.9504G= ENSP00000341097.4:p.Glu3168=
ENST00000371117.7:c.9504G= ENSP00000360158.3:p.Glu3168=
NM_138694.3:c.9504G= NP_619639.3:p.Glu3168=
NM_170724.2:c.9504G= NP_733842.2:p.Glu3168=
XM_011514679.1:c.9504G= XP_011512981.1:p.Glu3168=
XM_011514680.1:c.9504G= XP_011512982.1:p.Glu3168=
XM_011514681.1:c.9375G= XP_011512983.1:p.Glu3125=
XM_011514682.1:c.9366G= XP_011512984.1:p.Glu3122=
XM_011514683.1:c.8862G= XP_011512985.1:p.Glu2954=
XM_011514684.1:c.8793G= XP_011512986.1:p.Glu2931=
XM_011514685.1:c.9504G= XP_011512987.1:p.Glu3168=
XM_011514686.1:c.9504G= XP_011512988.1:p.Glu3168=
XM_011514687.1:c.9504G= XP_011512989.1:p.Glu3168=
XM_011514688.1:c.9504G= XP_011512990.1:p.Glu3168=
XM_011514690.1:c.3579G= XP_011512992.1:p.Glu1193=
XM_011514691.1:c.3579G= XP_011512993.1:p.Glu1193=
XM_011514680.3:c.9504G= XP_011512982.1:p.Glu3168=
XM_011514682.3:c.9366G= XP_011512984.1:p.Glu3122=
XM_011514683.3:c.8862G= XP_011512985.1:p.Glu2954=
XM_011514684.3:c.8793G= XP_011512986.1:p.Glu2931=
XM_011514686.2:c.9504G= XP_011512988.1:p.Glu3168=
XM_011514688.2:c.9504G= XP_011512990.1:p.Glu3168=
XM_011514690.3:c.3579G= XP_011512992.1:p.Glu1193=
XM_011514691.3:c.3579G= XP_011512993.1:p.Glu1193=
XM_017010944.2:c.9504G= XP_016866433.1:p.Glu3168=
XM_017010945.2:c.9429G= XP_016866434.1:p.Glu3143=
XM_017010946.2:c.9309G= XP_016866435.1:p.Glu3103=
XM_017010947.2:c.9240G= XP_016866436.1:p.Glu3080=
XM_017010948.2:c.8793G= XP_016866437.1:p.Glu2931=
XM_017010949.2:c.7644G= XP_016866438.1:p.Glu2548=
XM_017010950.1:c.9504G= XP_016866439.1:p.Glu3168=
XR_001743469.1:n.9780G=
NM_138694.4:c.9504G= MANE Select NP_619639.3:p.Glu3168=
NM_170724.3:c.9504G= NP_733842.2:p.Glu3168=