Canonical Allele Identifier: CA631319466
Gene: PNPLA6 HGNC NCBI

Linked Data

dbSNP Id: rs1376648121
gnomAD v2: 19-7598974-G-C
gnomAD v4: 19-7534088-G-C
MyVariant Identifiers: chr19:g.7598974G>C (hg19) chr19:g.7534088G>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-347G>C ENSP00000221249.5:n.-347G>C
ENST00000601870.1:c.170-80G>C
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