Canonical Allele Identifier: CA2587950593
Gene: PNPLA6 HGNC NCBI

Linked Data

gnomAD v4: 19-7534086-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534086C>T , CM000681.2:g.7534086C>T GRCh38
NC_000019.9:g.7598972C>T , CM000681.1:g.7598972C>T GRCh37
NC_000019.8:g.7504972C>T NCBI36
NG_013374.1:g.4935C>T
NG_015806.1:g.16477C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-349C>T ENSP00000221249.5:n.-349C>T
ENST00000601870.1:c.170-82C>T
Search 100 bp 5'
Search 100 bp 3'