Canonical Allele Identifier: CA2587950519
Gene: PNPLA6 HGNC NCBI

Linked Data

gnomAD v4: 19-7534017-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534017G>T , CM000681.2:g.7534017G>T GRCh38
NC_000019.9:g.7598903G>T , CM000681.1:g.7598903G>T GRCh37
NC_000019.8:g.7504903G>T NCBI36
NG_013374.1:g.4866G>T
NG_015806.1:g.16408G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-418G>T ENSP00000221249.5:n.-418G>T
ENST00000601870.1:c.169+149G>T
Search 100 bp 5'
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