Canonical Allele Identifier: CA559966753
Gene: PART1 HGNC NCBI

Linked Data

dbSNP Id: rs1226969933
gnomAD v2: 5-59825154-G-A
gnomAD v3: 5-60529327-G-A
gnomAD v4: 5-60529327-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.60529327G>A , CM000667.2:g.60529327G>A GRCh38
NC_000005.9:g.59825154G>A , CM000667.1:g.59825154G>A GRCh37
NC_000005.8:g.59860911G>A NCBI36
NG_027957.2:g.3C>T

Transcript Alleles

HGVS Amino-acid Change
NR_024617.1:n.712-77G>A