Canonical Allele Identifier: CA1139666211
Gene: PNPLA6 HGNC NCBI

Linked Data

ClinVar Variation Id: 894597
ClinVar RCV Id: RCV001135692
dbSNP Id: rs2022720712
gnomAD v4: 19-7534022-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534022G>C , CM000681.2:g.7534022G>C GRCh38
NC_000019.9:g.7598908G>C , CM000681.1:g.7598908G>C GRCh37
NC_000019.8:g.7504908G>C NCBI36
NG_013374.1:g.4871G>C
NG_015806.1:g.16413G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-413G>C ENSP00000221249.5:n.-413G>C
ENST00000601870.1:c.170-146G>C
Search 100 bp 5'
Search 100 bp 3'