Canonical Allele Identifier: CA2587950551
Gene: PNPLA6 HGNC NCBI

Linked Data

gnomAD v4: 19-7534046-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534046C>A , CM000681.2:g.7534046C>A GRCh38
NC_000019.9:g.7598932C>A , CM000681.1:g.7598932C>A GRCh37
NC_000019.8:g.7504932C>A NCBI36
NG_013374.1:g.4895C>A
NG_015806.1:g.16437C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-389C>A ENSP00000221249.5:n.-389C>A
ENST00000601870.1:c.170-122C>A