Canonical Allele Identifier: CA812700148

Gene: PART1

Linked Data

• dbSNP Id: rs1438706707
• gnomAD v3: 5-60529315-C-A
• gnomAD v4: 5-60529315-C-A
• MyVariant Identifiers: chr5:g.59825142C>A (hg19) ; chr5:g.60529315C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60529315C>A , CM000667.2:g.60529315C>A	GRCh38
NC_000005.9:g.59825142C>A , CM000667.1:g.59825142C>A	GRCh37
NC_000005.8:g.59860899C>A	NCBI36
NG_027957.2:g.15G>T

Transcript Alleles

HGVS	Amino-acid Change
NR_024617.1:n.712-89C>A