Canonical Allele Identifier: CA119478147
Gene: PART1 HGNC NCBI

Linked Data

dbSNP Id: rs749724639
gnomAD v2: 5-59825080-G-A
gnomAD v3: 5-60529253-G-A
gnomAD v4: 5-60529253-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.60529253G>A , CM000667.2:g.60529253G>A GRCh38
NC_000005.9:g.59825080G>A , CM000667.1:g.59825080G>A GRCh37
NC_000005.8:g.59860837G>A NCBI36
NG_027957.2:g.77C>T

Transcript Alleles

HGVS Amino-acid Change
NR_024617.1:n.712-151G>A