Canonical Allele Identifier: CA304858571
Gene: PNPLA6 HGNC NCBI

Linked Data

dbSNP Id: rs528186589
gnomAD v2: 19-7598909-T-G
gnomAD v3: 19-7534023-T-G
gnomAD v4: 19-7534023-T-G
MyVariant Identifiers: chr19:g.7598909T>G (hg19) chr19:g.7534023T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534023T>G , CM000681.2:g.7534023T>G GRCh38
NC_000019.9:g.7598909T>G , CM000681.1:g.7598909T>G GRCh37
NC_000019.8:g.7504909T>G NCBI36
NG_013374.1:g.4872T>G
NG_015806.1:g.16414T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-412T>G ENSP00000221249.5:n.-412T>G
ENST00000601870.1:c.170-145T>G
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