Canonical Allele Identifier: CA2587950564
Gene: PNPLA6 HGNC NCBI

Linked Data

gnomAD v4: 19-7534057-G-T

Genomic Alleles

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

Transcript Alleles

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