Canonical Allele Identifier: CA1628502235
Gene: PKHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51747979C= , CM000668.2:g.51747979C= GRCh38
NC_000006.11:g.51612777C= , CM000668.1:g.51612777C= GRCh37
NC_000006.10:g.51720736C= NCBI36
NG_008753.1:g.344647G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.9637G= MANE Select ENSP00000360158.3:p.Asp3213=
ENST00000340994.4:c.9637G= ENSP00000341097.4:p.Asp3213=
ENST00000371117.7:c.9637G= ENSP00000360158.3:p.Asp3213=
NM_138694.3:c.9637G= NP_619639.3:p.Asp3213=
NM_170724.2:c.9637G= NP_733842.2:p.Asp3213=
XM_011514679.1:c.9637G= XP_011512981.1:p.Asp3213=
XM_011514680.1:c.9637G= XP_011512982.1:p.Asp3213=
XM_011514681.1:c.9508G= XP_011512983.1:p.Asp3170=
XM_011514682.1:c.9499G= XP_011512984.1:p.Asp3167=
XM_011514683.1:c.8995G= XP_011512985.1:p.Asp2999=
XM_011514684.1:c.8926G= XP_011512986.1:p.Asp2976=
XM_011514685.1:c.9637G= XP_011512987.1:p.Asp3213=
XM_011514686.1:c.9637G= XP_011512988.1:p.Asp3213=
XM_011514687.1:c.9637G= XP_011512989.1:p.Asp3213=
XM_011514688.1:c.9637G= XP_011512990.1:p.Asp3213=
XM_011514690.1:c.3712G= XP_011512992.1:p.Asp1238=
XM_011514691.1:c.3712G= XP_011512993.1:p.Asp1238=
XM_011514680.3:c.9637G= XP_011512982.1:p.Asp3213=
XM_011514682.3:c.9499G= XP_011512984.1:p.Asp3167=
XM_011514683.3:c.8995G= XP_011512985.1:p.Asp2999=
XM_011514684.3:c.8926G= XP_011512986.1:p.Asp2976=
XM_011514686.2:c.9637G= XP_011512988.1:p.Asp3213=
XM_011514688.2:c.9637G= XP_011512990.1:p.Asp3213=
XM_011514690.3:c.3712G= XP_011512992.1:p.Asp1238=
XM_011514691.3:c.3712G= XP_011512993.1:p.Asp1238=
XM_017010944.2:c.9637G= XP_016866433.1:p.Asp3213=
XM_017010945.2:c.9562G= XP_016866434.1:p.Asp3188=
XM_017010946.2:c.9442G= XP_016866435.1:p.Asp3148=
XM_017010947.2:c.9373G= XP_016866436.1:p.Asp3125=
XM_017010948.2:c.8926G= XP_016866437.1:p.Asp2976=
XM_017010949.2:c.7777G= XP_016866438.1:p.Asp2593=
XM_017010950.1:c.9637G= XP_016866439.1:p.Asp3213=
XR_001743469.1:n.9913G=
NM_138694.4:c.9637G= MANE Select NP_619639.3:p.Asp3213=
NM_170724.3:c.9637G= NP_733842.2:p.Asp3213=