Canonical Allele Identifier: CA2587950560
Gene: PNPLA6 HGNC NCBI

Linked Data

gnomAD v4: 19-7534054-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534054G>T , CM000681.2:g.7534054G>T GRCh38
NC_000019.9:g.7598940G>T , CM000681.1:g.7598940G>T GRCh37
NC_000019.8:g.7504940G>T NCBI36
NG_013374.1:g.4903G>T
NG_015806.1:g.16445G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-381G>T ENSP00000221249.5:n.-381G>T
ENST00000601870.1:c.170-114G>T