Canonical Allele Identifier: CA2587950602
Gene: PNPLA6 HGNC NCBI

Linked Data

gnomAD v4: 19-7534092-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534092T>C , CM000681.2:g.7534092T>C GRCh38
NC_000019.9:g.7598978T>C , CM000681.1:g.7598978T>C GRCh37
NC_000019.8:g.7504978T>C NCBI36
NG_013374.1:g.4941T>C
NG_015806.1:g.16483T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-343T>C ENSP00000221249.5:n.-343T>C
ENST00000601870.1:c.170-76T>C
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