Canonical Allele Identifier: CA304858624
Gene: PNPLA6 HGNC NCBI

Linked Data

dbSNP Id: rs767827894
gnomAD v3: 19-7534099-A-G
gnomAD v4: 19-7534099-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534099A>G , CM000681.2:g.7534099A>G GRCh38
NC_000019.9:g.7598985A>G , CM000681.1:g.7598985A>G GRCh37
NC_000019.8:g.7504985A>G NCBI36
NG_013374.1:g.4948A>G
NG_015806.1:g.16490A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-336A>G ENSP00000221249.5:n.-336A>G
ENST00000601870.1:c.170-69A>G