Canonical Allele Identifier: CA364434848
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 528291
dbSNP Id: rs1554183514

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659645A>G , CM000668.2:g.51659645A>G GRCh38
NC_000006.11:g.51524443A>G , CM000668.1:g.51524443A>G GRCh37
NC_000006.10:g.51632402A>G NCBI36
NG_008753.1:g.432981T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.10481T>C MANE Select ENSP00000360158.3:p.Leu3494Pro
ENST00000371117.7:c.10481T>C ENSP00000360158.3:p.Leu3494Pro
NM_138694.3:c.10481T>C NP_619639.3:p.Leu3494Pro
XM_011514679.1:c.10481T>C XP_011512981.1:p.Leu3494Pro
XM_011514680.1:c.10481T>C XP_011512982.1:p.Leu3494Pro
XM_011514681.1:c.10352T>C XP_011512983.1:p.Leu3451Pro
XM_011514682.1:c.10343T>C XP_011512984.1:p.Leu3448Pro
XM_011514683.1:c.9839T>C XP_011512985.1:p.Leu3280Pro
XM_011514684.1:c.9770T>C XP_011512986.1:p.Leu3257Pro
XM_011514687.1:c.10157-10425T>C XP_011512989.1:n.10157-10425T>C
XM_011514690.1:c.4556T>C XP_011512992.1:p.Leu1519Pro
XM_011514691.1:c.4556T>C XP_011512993.1:p.Leu1519Pro
XR_926870.1:n.535+7272A>G
XR_926871.1:n.403+7272A>G
XR_926872.1:n.535+7272A>G
XM_011514680.3:c.10481T>C XP_011512982.1:p.Leu3494Pro
XM_011514682.3:c.10343T>C XP_011512984.1:p.Leu3448Pro
XM_011514683.3:c.9839T>C XP_011512985.1:p.Leu3280Pro
XM_011514684.3:c.9770T>C XP_011512986.1:p.Leu3257Pro
XM_011514690.3:c.4556T>C XP_011512992.1:p.Leu1519Pro
XM_011514691.3:c.4556T>C XP_011512993.1:p.Leu1519Pro
XM_017010944.2:c.10481T>C XP_016866433.1:p.Leu3494Pro
XM_017010945.2:c.10406T>C XP_016866434.1:p.Leu3469Pro
XM_017010946.2:c.10286T>C XP_016866435.1:p.Leu3429Pro
XM_017010947.2:c.10217T>C XP_016866436.1:p.Leu3406Pro
XM_017010948.2:c.9770T>C XP_016866437.1:p.Leu3257Pro
XM_017010949.2:c.8621T>C XP_016866438.1:p.Leu2874Pro
XR_001743469.1:n.10757T>C
XR_001744157.1:n.3145+7272A>G
XR_926870.2:n.3145+7272A>G
XR_926871.2:n.3013+7272A>G
XR_926872.2:n.3145+7272A>G
NM_138694.4:c.10481T>C MANE Select NP_619639.3:p.Leu3494Pro