Canonical Allele Identifier: CA1628502683
Gene: PKHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51748169A= , CM000668.2:g.51748169A= GRCh38
NC_000006.11:g.51612967A= , CM000668.1:g.51612967A= GRCh37
NC_000006.10:g.51720926A= NCBI36
NG_008753.1:g.344457T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.9447T= MANE Select ENSP00000360158.3:p.Ala3149=
ENST00000340994.4:c.9447T= ENSP00000341097.4:p.Ala3149=
ENST00000371117.7:c.9447T= ENSP00000360158.3:p.Ala3149=
NM_138694.3:c.9447T= NP_619639.3:p.Ala3149=
NM_170724.2:c.9447T= NP_733842.2:p.Ala3149=
XM_011514679.1:c.9447T= XP_011512981.1:p.Ala3149=
XM_011514680.1:c.9447T= XP_011512982.1:p.Ala3149=
XM_011514681.1:c.9318T= XP_011512983.1:p.Ala3106=
XM_011514682.1:c.9309T= XP_011512984.1:p.Ala3103=
XM_011514683.1:c.8805T= XP_011512985.1:p.Ala2935=
XM_011514684.1:c.8736T= XP_011512986.1:p.Ala2912=
XM_011514685.1:c.9447T= XP_011512987.1:p.Ala3149=
XM_011514686.1:c.9447T= XP_011512988.1:p.Ala3149=
XM_011514687.1:c.9447T= XP_011512989.1:p.Ala3149=
XM_011514688.1:c.9447T= XP_011512990.1:p.Ala3149=
XM_011514690.1:c.3522T= XP_011512992.1:p.Ala1174=
XM_011514691.1:c.3522T= XP_011512993.1:p.Ala1174=
XM_011514680.3:c.9447T= XP_011512982.1:p.Ala3149=
XM_011514682.3:c.9309T= XP_011512984.1:p.Ala3103=
XM_011514683.3:c.8805T= XP_011512985.1:p.Ala2935=
XM_011514684.3:c.8736T= XP_011512986.1:p.Ala2912=
XM_011514686.2:c.9447T= XP_011512988.1:p.Ala3149=
XM_011514688.2:c.9447T= XP_011512990.1:p.Ala3149=
XM_011514690.3:c.3522T= XP_011512992.1:p.Ala1174=
XM_011514691.3:c.3522T= XP_011512993.1:p.Ala1174=
XM_017010944.2:c.9447T= XP_016866433.1:p.Ala3149=
XM_017010945.2:c.9372T= XP_016866434.1:p.Ala3124=
XM_017010946.2:c.9252T= XP_016866435.1:p.Ala3084=
XM_017010947.2:c.9183T= XP_016866436.1:p.Ala3061=
XM_017010948.2:c.8736T= XP_016866437.1:p.Ala2912=
XM_017010949.2:c.7587T= XP_016866438.1:p.Ala2529=
XM_017010950.1:c.9447T= XP_016866439.1:p.Ala3149=
XR_001743469.1:n.9723T=
NM_138694.4:c.9447T= MANE Select NP_619639.3:p.Ala3149=
NM_170724.3:c.9447T= NP_733842.2:p.Ala3149=