Canonical Allele Identifier: CA450612759
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 501691
dbSNP Id: rs1290859259
gnomAD v2: 6-51524031-A-G
gnomAD v4: 6-51659233-A-G
COSMIC: COSM80346

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659233A>G , CM000668.2:g.51659233A>G GRCh38
NC_000006.11:g.51524031A>G , CM000668.1:g.51524031A>G GRCh37
NC_000006.10:g.51631990A>G NCBI36
NG_008753.1:g.433393T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.10893T>C MANE Select ENSP00000360158.3:p.Tyr3631=
ENST00000371117.7:c.10893T>C ENSP00000360158.3:p.Tyr3631=
NM_138694.3:c.10893T>C NP_619639.3:p.Tyr3631=
XM_011514679.1:c.10893T>C XP_011512981.1:p.Tyr3631=
XM_011514680.1:c.10893T>C XP_011512982.1:p.Tyr3631=
XM_011514681.1:c.10764T>C XP_011512983.1:p.Tyr3588=
XM_011514682.1:c.10755T>C XP_011512984.1:p.Tyr3585=
XM_011514683.1:c.10251T>C XP_011512985.1:p.Tyr3417=
XM_011514684.1:c.10182T>C XP_011512986.1:p.Tyr3394=
XM_011514687.1:c.10157-10013T>C XP_011512989.1:n.10157-10013T>C
XM_011514690.1:c.4968T>C XP_011512992.1:p.Tyr1656=
XM_011514691.1:c.4968T>C XP_011512993.1:p.Tyr1656=
XR_926870.1:n.535+6860A>G
XR_926871.1:n.403+6860A>G
XR_926872.1:n.535+6860A>G
XM_011514680.3:c.10893T>C XP_011512982.1:p.Tyr3631=
XM_011514682.3:c.10755T>C XP_011512984.1:p.Tyr3585=
XM_011514683.3:c.10251T>C XP_011512985.1:p.Tyr3417=
XM_011514684.3:c.10182T>C XP_011512986.1:p.Tyr3394=
XM_011514690.3:c.4968T>C XP_011512992.1:p.Tyr1656=
XM_011514691.3:c.4968T>C XP_011512993.1:p.Tyr1656=
XM_017010944.2:c.10893T>C XP_016866433.1:p.Tyr3631=
XM_017010945.2:c.10818T>C XP_016866434.1:p.Tyr3606=
XM_017010946.2:c.10698T>C XP_016866435.1:p.Tyr3566=
XM_017010947.2:c.10629T>C XP_016866436.1:p.Tyr3543=
XM_017010948.2:c.10182T>C XP_016866437.1:p.Tyr3394=
XM_017010949.2:c.9033T>C XP_016866438.1:p.Tyr3011=
XR_001743469.1:n.11169T>C
XR_001744157.1:n.3145+6860A>G
XR_926870.2:n.3145+6860A>G
XR_926871.2:n.3013+6860A>G
XR_926872.2:n.3145+6860A>G
NM_138694.4:c.10893T>C MANE Select NP_619639.3:p.Tyr3631=