Canonical Allele Identifier: CA2587950555
Gene: PNPLA6 HGNC NCBI

Linked Data

gnomAD v4: 19-7534049-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534049T>C , CM000681.2:g.7534049T>C GRCh38
NC_000019.9:g.7598935T>C , CM000681.1:g.7598935T>C GRCh37
NC_000019.8:g.7504935T>C NCBI36
NG_013374.1:g.4898T>C
NG_015806.1:g.16440T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-386T>C ENSP00000221249.5:n.-386T>C
ENST00000601870.1:c.170-119T>C
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