Canonical Allele Identifier: CA730519916
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

dbSNP Id: rs3131713
gnomAD v3: 1-20645555-G-C
gnomAD v4: 1-20645555-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645555G>C , CM000663.2:g.20645555G>C GRCh38
NC_000001.10:g.20972048G>C , CM000663.1:g.20972048G>C GRCh37
NC_000001.9:g.20844635G>C NCBI36
NG_008164.1:g.17101G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000321556.5:c.960-5G>C (PINK1) MANE Select ENSP00000364204.3:n.960-5G>C
ENST00000321556.4:c.960-5G>C (PINK1) ENSP00000364204.3:n.960-5G>C
ENST00000400490.2:n.48G>C (PINK1)
ENST00000492302.1:n.2048-5G>C (PINK1)
NM_032409.2:c.960-5G>C (PINK1) NP_115785.1:n.960-5G>C
NR_046507.1:n.3981+30C>G (PINK1-AS)
NM_032409.3:c.960-5G>C (PINK1) MANE Select NP_115785.1:n.960-5G>C