Canonical Allele Identifier: CA2813476187
Gene: PNPLA6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534075G>C , CM000681.2:g.7534075G>C GRCh38
NC_000019.9:g.7598961G>C , CM000681.1:g.7598961G>C GRCh37
NC_000019.8:g.7504961G>C NCBI36
NG_013374.1:g.4924G>C
NG_015806.1:g.16466G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-360G>C ENSP00000221249.5:n.-360G>C
ENST00000601870.1:c.170-93G>C