Canonical Allele Identifier: CA364431660
Gene: PKHD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659283T>C , CM000668.2:g.51659283T>C GRCh38
NC_000006.11:g.51524081T>C , CM000668.1:g.51524081T>C GRCh37
NC_000006.10:g.51632040T>C NCBI36
NG_008753.1:g.433343A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.10843A>G MANE Select ENSP00000360158.3:p.Arg3615Gly
ENST00000371117.7:c.10843A>G ENSP00000360158.3:p.Arg3615Gly
NM_138694.3:c.10843A>G NP_619639.3:p.Arg3615Gly
XM_011514679.1:c.10843A>G XP_011512981.1:p.Arg3615Gly
XM_011514680.1:c.10843A>G XP_011512982.1:p.Arg3615Gly
XM_011514681.1:c.10714A>G XP_011512983.1:p.Arg3572Gly
XM_011514682.1:c.10705A>G XP_011512984.1:p.Arg3569Gly
XM_011514683.1:c.10201A>G XP_011512985.1:p.Arg3401Gly
XM_011514684.1:c.10132A>G XP_011512986.1:p.Arg3378Gly
XM_011514687.1:c.10157-10063A>G XP_011512989.1:n.10157-10063A>G
XM_011514690.1:c.4918A>G XP_011512992.1:p.Arg1640Gly
XM_011514691.1:c.4918A>G XP_011512993.1:p.Arg1640Gly
XR_926870.1:n.535+6910T>C
XR_926871.1:n.403+6910T>C
XR_926872.1:n.535+6910T>C
XM_011514680.3:c.10843A>G XP_011512982.1:p.Arg3615Gly
XM_011514682.3:c.10705A>G XP_011512984.1:p.Arg3569Gly
XM_011514683.3:c.10201A>G XP_011512985.1:p.Arg3401Gly
XM_011514684.3:c.10132A>G XP_011512986.1:p.Arg3378Gly
XM_011514690.3:c.4918A>G XP_011512992.1:p.Arg1640Gly
XM_011514691.3:c.4918A>G XP_011512993.1:p.Arg1640Gly
XM_017010944.2:c.10843A>G XP_016866433.1:p.Arg3615Gly
XM_017010945.2:c.10768A>G XP_016866434.1:p.Arg3590Gly
XM_017010946.2:c.10648A>G XP_016866435.1:p.Arg3550Gly
XM_017010947.2:c.10579A>G XP_016866436.1:p.Arg3527Gly
XM_017010948.2:c.10132A>G XP_016866437.1:p.Arg3378Gly
XM_017010949.2:c.8983A>G XP_016866438.1:p.Arg2995Gly
XR_001743469.1:n.11119A>G
XR_001744157.1:n.3145+6910T>C
XR_926870.2:n.3145+6910T>C
XR_926871.2:n.3013+6910T>C
XR_926872.2:n.3145+6910T>C
NM_138694.4:c.10843A>G MANE Select NP_619639.3:p.Arg3615Gly