Canonical Allele Identifier: CA2587950523
Gene: PNPLA6 HGNC NCBI

Linked Data

gnomAD v4: 19-7534020-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534020C>A , CM000681.2:g.7534020C>A GRCh38
NC_000019.9:g.7598906C>A , CM000681.1:g.7598906C>A GRCh37
NC_000019.8:g.7504906C>A NCBI36
NG_013374.1:g.4869C>A
NG_015806.1:g.16411C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-415C>A ENSP00000221249.5:n.-415C>A
ENST00000601870.1:c.170-148C>A
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