Canonical Allele Identifier: CA119478150
Gene: PART1 HGNC NCBI

Linked Data

dbSNP Id: rs184422277
gnomAD v2: 5-59825084-T-C
gnomAD v3: 5-60529257-T-C
gnomAD v4: 5-60529257-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.60529257T>C , CM000667.2:g.60529257T>C GRCh38
NC_000005.9:g.59825084T>C , CM000667.1:g.59825084T>C GRCh37
NC_000005.8:g.59860841T>C NCBI36
NG_027957.2:g.73A>G

Transcript Alleles

HGVS Amino-acid Change
NR_024617.1:n.712-147T>C