Canonical Allele Identifier: CA13827802
Gene: PLUT HGNC NCBI
COSMIC:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27852622A>G , CM000675.2:g.27852622A>G GRCh38
NC_000013.10:g.28426759A>G , CM000675.1:g.28426759A>G GRCh37
NC_000013.9:g.27324759A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_047484.1:n.242-4086T>C
NR_047484.2:n.143-4086T>C