Canonical Allele Identifier: CA1140495530
Community Standard Title: NM_032409.3(PINK1):c.813C= (p.His271=)
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20644526C= , CM000663.2:g.20644526C= GRCh38
NC_000001.10:g.20971019C= , CM000663.1:g.20971019C= GRCh37
NC_000001.9:g.20843606C= NCBI36
NG_008164.1:g.16072C=

Transcript Alleles

HGVS Amino-acid Change
NM_032409.3:c.813C= (PINK1) MANE Select NP_115785.1:p.His271=
ENST00000321556.5:c.813C= (PINK1) MANE Select ENSP00000364204.3:p.His271=
NM_032409.2:c.813C= (PINK1) NP_115785.1:p.His271=
NR_046507.1:n.3981+1059G= (PINK1-AS)
ENST00000321556.4:c.813C= (PINK1) ENSP00000364204.3:p.His271=
ENST00000492302.1:n.1901C= (PINK1)