Canonical Allele Identifier: CA2587950605
Gene: PNPLA6 HGNC NCBI

Linked Data

gnomAD v4: 19-7534095-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534095A>C , CM000681.2:g.7534095A>C GRCh38
NC_000019.9:g.7598981A>C , CM000681.1:g.7598981A>C GRCh37
NC_000019.8:g.7504981A>C NCBI36
NG_013374.1:g.4944A>C
NG_015806.1:g.16486A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-340A>C ENSP00000221249.5:n.-340A>C
ENST00000601870.1:c.170-73A>C