Canonical Allele Identifier: CA884206173
Gene: PNPLA6 HGNC NCBI

Linked Data

dbSNP Id: rs1376648121
gnomAD v4: 19-7534088-G-A
MyVariant Identifiers: chr19:g.7598974G>A (hg19) chr19:g.7534088G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534088G>A , CM000681.2:g.7534088G>A GRCh38
NC_000019.9:g.7598974G>A , CM000681.1:g.7598974G>A GRCh37
NC_000019.8:g.7504974G>A NCBI36
NG_013374.1:g.4937G>A
NG_015806.1:g.16479G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-347G>A ENSP00000221249.5:n.-347G>A
ENST00000601870.1:c.170-80G>A
Search 100 bp 5'
Search 100 bp 3'