Canonical Allele Identifier: CA812700134

Gene: PART1

Linked Data

• dbSNP Id: rs1292923128
• gnomAD v3: 5-60529287-C-T
• gnomAD v4: 5-60529287-C-T
• MyVariant Identifiers: chr5:g.59825114C>T (hg19) ; chr5:g.60529287C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60529287C>T , CM000667.2:g.60529287C>T	GRCh38
NC_000005.9:g.59825114C>T , CM000667.1:g.59825114C>T	GRCh37
NC_000005.8:g.59860871C>T	NCBI36
NG_027957.2:g.43G>A

Transcript Alleles

HGVS	Amino-acid Change
NR_024617.1:n.712-117C>T