Canonical Allele Identifier: CA631319464
Gene: PNPLA6 HGNC NCBI

Linked Data

dbSNP Id: rs1290878760
gnomAD v2: 19-7598971-T-G
gnomAD v3: 19-7534085-T-G
gnomAD v4: 19-7534085-T-G
MyVariant Identifiers: chr19:g.7598971T>G (hg19) chr19:g.7534085T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534085T>G , CM000681.2:g.7534085T>G GRCh38
NC_000019.9:g.7598971T>G , CM000681.1:g.7598971T>G GRCh37
NC_000019.8:g.7504971T>G NCBI36
NG_013374.1:g.4934T>G
NG_015806.1:g.16476T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-350T>G ENSP00000221249.5:n.-350T>G
ENST00000601870.1:c.170-83T>G
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