Canonical Allele Identifier: CA812700132

Gene: PART1

Linked Data

• dbSNP Id: rs1390073490
• gnomAD v3: 5-60529284-A-G
• gnomAD v4: 5-60529284-A-G
• MyVariant Identifiers: chr5:g.59825111A>G (hg19) ; chr5:g.60529284A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60529284A>G , CM000667.2:g.60529284A>G	GRCh38
NC_000005.9:g.59825111A>G , CM000667.1:g.59825111A>G	GRCh37
NC_000005.8:g.59860868A>G	NCBI36
NG_027957.2:g.46T>C

Transcript Alleles

HGVS	Amino-acid Change
NR_024617.1:n.712-120A>G