Canonical Allele Identifier: CA999332548
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

gnomAD v3: 1-20645479-C-G
gnomAD v4: 1-20645479-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645479C>G , CM000663.2:g.20645479C>G GRCh38
NC_000001.10:g.20971972C>G , CM000663.1:g.20971972C>G GRCh37
NC_000001.9:g.20844559C>G NCBI36
NG_008164.1:g.17025C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000321556.5:c.960-81C>G (PINK1) MANE Select ENSP00000364204.3:n.960-81C>G
ENST00000321556.4:c.960-81C>G (PINK1) ENSP00000364204.3:n.960-81C>G
ENST00000492302.1:n.2048-81C>G (PINK1)
NM_032409.2:c.960-81C>G (PINK1) NP_115785.1:n.960-81C>G
NR_046507.1:n.3981+106G>C (PINK1-AS)
NM_032409.3:c.960-81C>G (PINK1) MANE Select NP_115785.1:n.960-81C>G