Canonical Allele Identifier: CA304858631
Gene: PNPLA6 HGNC NCBI

Linked Data

dbSNP Id: rs112527036
gnomAD v4: 19-7534100-T-C
MyVariant Identifiers: chr19:g.7598986T>C (hg19) chr19:g.7534100T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534100T>C , CM000681.2:g.7534100T>C GRCh38
NC_000019.9:g.7598986T>C , CM000681.1:g.7598986T>C GRCh37
NC_000019.8:g.7504986T>C NCBI36
NG_013374.1:g.4949T>C
NG_015806.1:g.16491T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-335T>C ENSP00000221249.5:n.-335T>C
ENST00000601870.1:c.170-68T>C
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