Canonical Allele Identifier: CA2320965697
Gene: PNPLA6 HGNC NCBI

Linked Data

dbSNP Id: rs570723420
gnomAD v4: 19-7534056-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534056C>G , CM000681.2:g.7534056C>G GRCh38
NC_000019.9:g.7598942C>G , CM000681.1:g.7598942C>G GRCh37
NC_000019.8:g.7504942C>G NCBI36
NG_013374.1:g.4905C>G
NG_015806.1:g.16447C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-379C>G ENSP00000221249.5:n.-379C>G
ENST00000601870.1:c.170-112C>G
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