Canonical Allele Identifier: CA2587950563
Gene: PNPLA6 HGNC NCBI

Linked Data

gnomAD v4: 19-7534057-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534057G>A , CM000681.2:g.7534057G>A GRCh38
NC_000019.9:g.7598943G>A , CM000681.1:g.7598943G>A GRCh37
NC_000019.8:g.7504943G>A NCBI36
NG_013374.1:g.4906G>A
NG_015806.1:g.16448G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-378G>A ENSP00000221249.5:n.-378G>A
ENST00000601870.1:c.170-111G>A