Canonical Allele Identifier: CA1628503969
Gene: PKHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51748681T= , CM000668.2:g.51748681T= GRCh38
NC_000006.11:g.51613479T= , CM000668.1:g.51613479T= GRCh37
NC_000006.10:g.51721438T= NCBI36
NG_008753.1:g.343945A=

Transcript Alleles

HGVS Amino-acid change
ENST00000371117.8:c.8951-16A= MANE Select ENSP00000360158.3:n.8951-16A=
ENST00000340994.4:c.8951-16A= ENSP00000341097.4:n.8951-16A=
ENST00000371117.7:c.8951-16A= ENSP00000360158.3:n.8951-16A=
NM_138694.3:c.8951-16A= NP_619639.3:n.8951-16A=
NM_170724.2:c.8951-16A= NP_733842.2:n.8951-16A=
XM_011514679.1:c.8951-16A= XP_011512981.1:n.8951-16A=
XM_011514680.1:c.8951-16A= XP_011512982.1:n.8951-16A=
XM_011514681.1:c.8822-16A= XP_011512983.1:n.8822-16A=
XM_011514682.1:c.8813-16A= XP_011512984.1:n.8813-16A=
XM_011514683.1:c.8309-16A= XP_011512985.1:n.8309-16A=
XM_011514684.1:c.8240-16A= XP_011512986.1:n.8240-16A=
XM_011514685.1:c.8951-16A= XP_011512987.1:n.8951-16A=
XM_011514686.1:c.8951-16A= XP_011512988.1:n.8951-16A=
XM_011514687.1:c.8951-16A= XP_011512989.1:n.8951-16A=
XM_011514688.1:c.8951-16A= XP_011512990.1:n.8951-16A=
XM_011514690.1:c.3026-16A= XP_011512992.1:n.3026-16A=
XM_011514691.1:c.3026-16A= XP_011512993.1:n.3026-16A=
XM_011514680.3:c.8951-16A= XP_011512982.1:n.8951-16A=
XM_011514682.3:c.8813-16A= XP_011512984.1:n.8813-16A=
XM_011514683.3:c.8309-16A= XP_011512985.1:n.8309-16A=
XM_011514684.3:c.8240-16A= XP_011512986.1:n.8240-16A=
XM_011514686.2:c.8951-16A= XP_011512988.1:n.8951-16A=
XM_011514688.2:c.8951-16A= XP_011512990.1:n.8951-16A=
XM_011514690.3:c.3026-16A= XP_011512992.1:n.3026-16A=
XM_011514691.3:c.3026-16A= XP_011512993.1:n.3026-16A=
XM_017010944.2:c.8951-16A= XP_016866433.1:n.8951-16A=
XM_017010945.2:c.8876-16A= XP_016866434.1:n.8876-16A=
XM_017010946.2:c.8756-16A= XP_016866435.1:n.8756-16A=
XM_017010947.2:c.8687-16A= XP_016866436.1:n.8687-16A=
XM_017010948.2:c.8240-16A= XP_016866437.1:n.8240-16A=
XM_017010949.2:c.7091-16A= XP_016866438.1:n.7091-16A=
XM_017010950.1:c.8951-16A= XP_016866439.1:n.8951-16A=
XR_001743469.1:n.9227-16A=
NM_138694.4:c.8951-16A= MANE Select NP_619639.3:n.8951-16A=
NM_170724.3:c.8951-16A= NP_733842.2:n.8951-16A=