Canonical Allele Identifier: CA1628530066
Gene: PKHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51791374C= , CM000668.2:g.51791374C= GRCh38
NC_000006.11:g.51656172C= , CM000668.1:g.51656172C= GRCh37
NC_000006.10:g.51764131C= NCBI36
NG_008753.1:g.301252G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.8303-1G= MANE Select ENSP00000360158.3:n.8303-1G=
ENST00000340994.4:c.8303-1G= ENSP00000341097.4:n.8303-1G=
ENST00000371117.7:c.8303-1G= ENSP00000360158.3:n.8303-1G=
NM_138694.3:c.8303-1G= NP_619639.3:n.8303-1G=
NM_170724.2:c.8303-1G= NP_733842.2:n.8303-1G=
XM_011514679.1:c.8303-1G= XP_011512981.1:n.8303-1G=
XM_011514680.1:c.8303-1G= XP_011512982.1:n.8303-1G=
XM_011514681.1:c.8174-1G= XP_011512983.1:n.8174-1G=
XM_011514682.1:c.8303-15453G= XP_011512984.1:n.8303-15453G=
XM_011514683.1:c.7661-1G= XP_011512985.1:n.7661-1G=
XM_011514684.1:c.7592-1G= XP_011512986.1:n.7592-1G=
XM_011514685.1:c.8303-1G= XP_011512987.1:n.8303-1G=
XM_011514686.1:c.8303-1G= XP_011512988.1:n.8303-1G=
XM_011514687.1:c.8303-1G= XP_011512989.1:n.8303-1G=
XM_011514688.1:c.8303-1G= XP_011512990.1:n.8303-1G=
XM_011514689.1:c.*9-1G= XP_011512991.1:n.*9-1G=
XM_011514690.1:c.2378-1G= XP_011512992.1:n.2378-1G=
XM_011514691.1:c.2378-1G= XP_011512993.1:n.2378-1G=
XM_011514680.3:c.8303-1G= XP_011512982.1:n.8303-1G=
XM_011514682.3:c.8303-15453G= XP_011512984.1:n.8303-15453G=
XM_011514683.3:c.7661-1G= XP_011512985.1:n.7661-1G=
XM_011514684.3:c.7592-1G= XP_011512986.1:n.7592-1G=
XM_011514686.2:c.8303-1G= XP_011512988.1:n.8303-1G=
XM_011514688.2:c.8303-1G= XP_011512990.1:n.8303-1G=
XM_011514690.3:c.2378-1G= XP_011512992.1:n.2378-1G=
XM_011514691.3:c.2378-1G= XP_011512993.1:n.2378-1G=
XM_017010944.2:c.8303-1G= XP_016866433.1:n.8303-1G=
XM_017010945.2:c.8228-1G= XP_016866434.1:n.8228-1G=
XM_017010946.2:c.8108-1G= XP_016866435.1:n.8108-1G=
XM_017010947.2:c.8039-1G= XP_016866436.1:n.8039-1G=
XM_017010948.2:c.7592-1G= XP_016866437.1:n.7592-1G=
XM_017010949.2:c.6443-1G= XP_016866438.1:n.6443-1G=
XM_017010950.1:c.8303-1G= XP_016866439.1:n.8303-1G=
XM_017010951.1:c.8303-1G= XP_016866440.1:n.8303-1G=
XR_001743469.1:n.8579-1G=
NM_138694.4:c.8303-1G= MANE Select NP_619639.3:n.8303-1G=
NM_170724.3:c.8303-1G= NP_733842.2:n.8303-1G=