Canonical Allele Identifier: CA304858608
Gene: PNPLA6 HGNC NCBI

Linked Data

dbSNP Id: rs1032452262
gnomAD v2: 19-7598977-T-C
gnomAD v3: 19-7534091-T-C
gnomAD v4: 19-7534091-T-C
MyVariant Identifiers: chr19:g.7598977T>C (hg19) chr19:g.7534091T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534091T>C , CM000681.2:g.7534091T>C GRCh38
NC_000019.9:g.7598977T>C , CM000681.1:g.7598977T>C GRCh37
NC_000019.8:g.7504977T>C NCBI36
NG_013374.1:g.4940T>C
NG_015806.1:g.16482T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-344T>C ENSP00000221249.5:n.-344T>C
ENST00000601870.1:c.170-77T>C
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