Canonical Allele Identifier: CA2598024104

Gene: PART1

Linked Data

• dbSNP Id: rs2150271014
• gnomAD v3: 5-60529347-T-C
• gnomAD v4: 5-60529347-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60529347T>C , CM000667.2:g.60529347T>C	GRCh38
NC_000005.9:g.59825174T>C , CM000667.1:g.59825174T>C	GRCh37
NC_000005.8:g.59860931T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_024617.1:n.712-57T>C