Canonical Allele Identifier: CA2813476191
Gene: PNPLA6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534093C>A , CM000681.2:g.7534093C>A GRCh38
NC_000019.9:g.7598979C>A , CM000681.1:g.7598979C>A GRCh37
NC_000019.8:g.7504979C>A NCBI36
NG_013374.1:g.4942C>A
NG_015806.1:g.16484C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-342C>A ENSP00000221249.5:n.-342C>A
ENST00000601870.1:c.170-75C>A
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