Canonical Allele Identifier: CA631319461
Gene: PNPLA6 HGNC NCBI

Linked Data

dbSNP Id: rs999677029
gnomAD v2: 19-7598966-C-G
gnomAD v3: 19-7534080-C-G
gnomAD v4: 19-7534080-C-G
MyVariant Identifiers: chr19:g.7598966C>G (hg19) chr19:g.7534080C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534080C>G , CM000681.2:g.7534080C>G GRCh38
NC_000019.9:g.7598966C>G , CM000681.1:g.7598966C>G GRCh37
NC_000019.8:g.7504966C>G NCBI36
NG_013374.1:g.4929C>G
NG_015806.1:g.16471C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-355C>G ENSP00000221249.5:n.-355C>G
ENST00000601870.1:c.170-88C>G
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