Canonical Allele Identifier: CA812700173

Gene: PART1

Linked Data

• dbSNP Id: rs1319022975
• gnomAD v3: 5-60529365-T-C
• gnomAD v4: 5-60529365-T-C
• MyVariant Identifiers: chr5:g.59825192T>C (hg19) ; chr5:g.60529365T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60529365T>C , CM000667.2:g.60529365T>C	GRCh38
NC_000005.9:g.59825192T>C , CM000667.1:g.59825192T>C	GRCh37
NC_000005.8:g.59860949T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_024617.1:n.712-39T>C