Canonical Allele Identifier: CA119478155

Gene: PART1

Linked Data

• dbSNP Id: rs922197920
• gnomAD v2: 5-59825164-C-G
• gnomAD v3: 5-60529337-C-G
• gnomAD v4: 5-60529337-C-G
• MyVariant Identifiers: chr5:g.59825164C>G (hg19) ; chr5:g.60529337C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60529337C>G , CM000667.2:g.60529337C>G	GRCh38
NC_000005.9:g.59825164C>G , CM000667.1:g.59825164C>G	GRCh37
NC_000005.8:g.59860921C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_024617.1:n.712-67C>G