Canonical Allele Identifier: CA2813476189
Gene: PNPLA6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534083A>T , CM000681.2:g.7534083A>T GRCh38
NC_000019.9:g.7598969A>T , CM000681.1:g.7598969A>T GRCh37
NC_000019.8:g.7504969A>T NCBI36
NG_013374.1:g.4932A>T
NG_015806.1:g.16474A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-352A>T ENSP00000221249.5:n.-352A>T
ENST00000601870.1:c.170-85A>T