Canonical Allele Identifier: CA2587950597
Gene: PNPLA6 HGNC NCBI

Linked Data

gnomAD v4: 19-7534089-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534089C>G , CM000681.2:g.7534089C>G GRCh38
NC_000019.9:g.7598975C>G , CM000681.1:g.7598975C>G GRCh37
NC_000019.8:g.7504975C>G NCBI36
NG_013374.1:g.4938C>G
NG_015806.1:g.16480C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-346C>G ENSP00000221249.5:n.-346C>G
ENST00000601870.1:c.170-79C>G