Canonical Allele Identifier: CA559966754
Gene: PART1 HGNC NCBI

Linked Data

dbSNP Id: rs1215593592
gnomAD v2: 5-59825176-A-G
gnomAD v3: 5-60529349-A-G
gnomAD v4: 5-60529349-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.60529349A>G , CM000667.2:g.60529349A>G GRCh38
NC_000005.9:g.59825176A>G , CM000667.1:g.59825176A>G GRCh37
NC_000005.8:g.59860933A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_024617.1:n.712-55A>G