Canonical Allele Identifier: CA2587950543
Gene: PNPLA6 HGNC NCBI

Linked Data

gnomAD v4: 19-7534037-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534037G>C , CM000681.2:g.7534037G>C GRCh38
NC_000019.9:g.7598923G>C , CM000681.1:g.7598923G>C GRCh37
NC_000019.8:g.7504923G>C NCBI36
NG_013374.1:g.4886G>C
NG_015806.1:g.16428G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-398G>C ENSP00000221249.5:n.-398G>C
ENST00000601870.1:c.170-131G>C
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