×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA338857899
Gene: PINK1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr1:g.20964603A>C (hg19)
chr1:g.20638110A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.20638110A>C , CM000663.2:g.20638110A>C
GRCh38
NC_000001.10:g.20964603A>C , CM000663.1:g.20964603A>C
GRCh37
NC_000001.9:g.20837190A>C
NCBI36
NG_008164.1:g.9656A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000321556.5:c.656A>C
MANE Select
ENSP00000364204.3:p.Lys219Thr
ENST00000321556.4:c.656A>C
ENSP00000364204.3:p.Lys219Thr
NM_032409.2:c.656A>C
NP_115785.1:p.Lys219Thr
NM_032409.3:c.656A>C
MANE Select
NP_115785.1:p.Lys219Thr
Search 100 bp 5'
Search 100 bp 3'