Canonical Allele Identifier: CA812700175

Gene: PART1

Linked Data

• dbSNP Id: rs1362314425
• gnomAD v3: 5-60529375-T-C
• gnomAD v4: 5-60529375-T-C
• MyVariant Identifiers: chr5:g.59825202T>C (hg19) ; chr5:g.60529375T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60529375T>C , CM000667.2:g.60529375T>C	GRCh38
NC_000005.9:g.59825202T>C , CM000667.1:g.59825202T>C	GRCh37
NC_000005.8:g.59860959T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_024617.1:n.712-29T>C