Canonical Allele Identifier: CA119478146

Gene: PART1

Linked Data

• dbSNP Id: rs1014103770
• gnomAD v3: 5-60529252-C-T
• gnomAD v4: 5-60529252-C-T
• MyVariant Identifiers: chr5:g.59825079C>T (hg19) ; chr5:g.60529252C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60529252C>T , CM000667.2:g.60529252C>T	GRCh38
NC_000005.9:g.59825079C>T , CM000667.1:g.59825079C>T	GRCh37
NC_000005.8:g.59860836C>T	NCBI36
NG_027957.2:g.78G>A

Transcript Alleles

HGVS	Amino-acid Change
NR_024617.1:n.712-152C>T