Canonical Allele Identifier: CA364431076
Gene: PKHD1 HGNC NCBI

Linked Data

dbSNP Id: rs1268163169
gnomAD v2: 6-51523982-T-C
gnomAD v4: 6-51659184-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659184T>C , CM000668.2:g.51659184T>C GRCh38
NC_000006.11:g.51523982T>C , CM000668.1:g.51523982T>C GRCh37
NC_000006.10:g.51631941T>C NCBI36
NG_008753.1:g.433442A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.10942A>G MANE Select ENSP00000360158.3:p.Arg3648Gly
ENST00000371117.7:c.10942A>G ENSP00000360158.3:p.Arg3648Gly
NM_138694.3:c.10942A>G NP_619639.3:p.Arg3648Gly
XM_011514679.1:c.10942A>G XP_011512981.1:p.Arg3648Gly
XM_011514680.1:c.10942A>G XP_011512982.1:p.Arg3648Gly
XM_011514681.1:c.10813A>G XP_011512983.1:p.Arg3605Gly
XM_011514682.1:c.10804A>G XP_011512984.1:p.Arg3602Gly
XM_011514683.1:c.10300A>G XP_011512985.1:p.Arg3434Gly
XM_011514684.1:c.10231A>G XP_011512986.1:p.Arg3411Gly
XM_011514687.1:c.10157-9964A>G XP_011512989.1:n.10157-9964A>G
XM_011514690.1:c.5017A>G XP_011512992.1:p.Arg1673Gly
XM_011514691.1:c.5017A>G XP_011512993.1:p.Arg1673Gly
XR_926870.1:n.535+6811T>C
XR_926871.1:n.403+6811T>C
XR_926872.1:n.535+6811T>C
XM_011514680.3:c.10942A>G XP_011512982.1:p.Arg3648Gly
XM_011514682.3:c.10804A>G XP_011512984.1:p.Arg3602Gly
XM_011514683.3:c.10300A>G XP_011512985.1:p.Arg3434Gly
XM_011514684.3:c.10231A>G XP_011512986.1:p.Arg3411Gly
XM_011514690.3:c.5017A>G XP_011512992.1:p.Arg1673Gly
XM_011514691.3:c.5017A>G XP_011512993.1:p.Arg1673Gly
XM_017010944.2:c.10942A>G XP_016866433.1:p.Arg3648Gly
XM_017010945.2:c.10867A>G XP_016866434.1:p.Arg3623Gly
XM_017010946.2:c.10747A>G XP_016866435.1:p.Arg3583Gly
XM_017010947.2:c.10678A>G XP_016866436.1:p.Arg3560Gly
XM_017010948.2:c.10231A>G XP_016866437.1:p.Arg3411Gly
XM_017010949.2:c.9082A>G XP_016866438.1:p.Arg3028Gly
XR_001743469.1:n.11218A>G
XR_001744157.1:n.3145+6811T>C
XR_926870.2:n.3145+6811T>C
XR_926871.2:n.3013+6811T>C
XR_926872.2:n.3145+6811T>C
NM_138694.4:c.10942A>G MANE Select NP_619639.3:p.Arg3648Gly