Canonical Allele Identifier: CA2582317623
Gene: PNPLA6 HGNC NCBI

Linked Data

dbSNP Id: rs2146031428
gnomAD v3: 19-7534089-C-A
gnomAD v4: 19-7534089-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534089C>A , CM000681.2:g.7534089C>A GRCh38
NC_000019.9:g.7598975C>A , CM000681.1:g.7598975C>A GRCh37
NC_000019.8:g.7504975C>A NCBI36
NG_013374.1:g.4938C>A
NG_015806.1:g.16480C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-346C>A ENSP00000221249.5:n.-346C>A
ENST00000601870.1:c.170-79C>A
Search 100 bp 5'
Search 100 bp 3'