Canonical Allele Identifier: CA993156715
Gene: PNPLA6 HGNC NCBI

Linked Data

dbSNP Id: rs2022723798
gnomAD v3: 19-7534064-C-G
gnomAD v4: 19-7534064-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534064C>G , CM000681.2:g.7534064C>G GRCh38
NC_000019.9:g.7598950C>G , CM000681.1:g.7598950C>G GRCh37
NC_000019.8:g.7504950C>G NCBI36
NG_013374.1:g.4913C>G
NG_015806.1:g.16455C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-371C>G ENSP00000221249.5:n.-371C>G
ENST00000601870.1:c.170-104C>G