Canonical Allele Identifier: CA338857853
Gene: PINK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20638106A>G , CM000663.2:g.20638106A>G GRCh38
NC_000001.10:g.20964599A>G , CM000663.1:g.20964599A>G GRCh37
NC_000001.9:g.20837186A>G NCBI36
NG_008164.1:g.9652A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000321556.5:c.652A>G MANE Select ENSP00000364204.3:p.Ile218Val
ENST00000321556.4:c.652A>G ENSP00000364204.3:p.Ile218Val
NM_032409.2:c.652A>G NP_115785.1:p.Ile218Val
NM_032409.3:c.652A>G MANE Select NP_115785.1:p.Ile218Val