Canonical Allele Identifier: CA304858594
Gene: PNPLA6 HGNC NCBI

Linked Data

dbSNP Id: rs570723420
gnomAD v3: 19-7534056-C-T
gnomAD v4: 19-7534056-C-T
MyVariant Identifiers: chr19:g.7598942C>T (hg19) chr19:g.7534056C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534056C>T , CM000681.2:g.7534056C>T GRCh38
NC_000019.9:g.7598942C>T , CM000681.1:g.7598942C>T GRCh37
NC_000019.8:g.7504942C>T NCBI36
NG_013374.1:g.4905C>T
NG_015806.1:g.16447C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-379C>T ENSP00000221249.5:n.-379C>T
ENST00000601870.1:c.170-112C>T
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