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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
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Canonical Allele Identifier:
CA18990077
Gene: PINK1
HGNC
NCBI
Linked Data
dbSNP Id:
rs764042726
MyVariant Identifiers:
chr1:g.20964608A>G (hg19)
chr1:g.20638115A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.20638115A>G , CM000663.2:g.20638115A>G
GRCh38
NC_000001.10:g.20964608A>G , CM000663.1:g.20964608A>G
GRCh37
NC_000001.9:g.20837195A>G
NCBI36
NG_008164.1:g.9661A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000321556.5:c.661A>G
MANE Select
ENSP00000364204.3:p.Met221Val
ENST00000321556.4:c.661A>G
ENSP00000364204.3:p.Met221Val
NM_032409.2:c.661A>G
NP_115785.1:p.Met221Val
NM_032409.3:c.661A>G
MANE Select
NP_115785.1:p.Met221Val
Search 100 bp 5'
Search 100 bp 3'