Canonical Allele Identifier: CA2320965675
Gene: PNPLA6 HGNC NCBI

Linked Data

dbSNP Id: rs2022720071
gnomAD v4: 19-7534012-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534012G>C , CM000681.2:g.7534012G>C GRCh38
NC_000019.9:g.7598898G>C , CM000681.1:g.7598898G>C GRCh37
NC_000019.8:g.7504898G>C NCBI36
NG_013374.1:g.4861G>C
NG_015806.1:g.16403G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-423G>C ENSP00000221249.5:n.-423G>C
ENST00000601870.1:c.169+144G>C
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