Canonical Allele Identifier: CA884206159
Gene: PNPLA6 HGNC NCBI

Linked Data

dbSNP Id: rs1041337381
gnomAD v3: 19-7534042-G-A
gnomAD v4: 19-7534042-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534042G>A , CM000681.2:g.7534042G>A GRCh38
NC_000019.9:g.7598928G>A , CM000681.1:g.7598928G>A GRCh37
NC_000019.8:g.7504928G>A NCBI36
NG_013374.1:g.4891G>A
NG_015806.1:g.16433G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-393G>A ENSP00000221249.5:n.-393G>A
ENST00000601870.1:c.170-126G>A