Canonical Allele Identifier: CA1076594254
Gene: PART1 HGNC NCBI

Linked Data

dbSNP Id: rs1751260854
gnomAD v3: 5-60529364-C-T
gnomAD v4: 5-60529364-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.60529364C>T , CM000667.2:g.60529364C>T GRCh38
NC_000005.9:g.59825191C>T , CM000667.1:g.59825191C>T GRCh37
NC_000005.8:g.59860948C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_024617.1:n.712-40C>T