Canonical Allele Identifier: CA515082840
Gene: PNPLA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.44342064C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946184C>G , CM000684.2:g.43946184C>G GRCh38
NC_000022.10:g.44342064C>G , CM000684.1:g.44342064C>G GRCh37
NC_000022.9:g.42673397C>G NCBI36
NG_008631.1:g.27446C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1248C>G MANE Select ENSP00000216180.3:p.Ala416=
ENST00000216180.7:c.1248C>G ENSP00000216180.3:p.Ala416=
ENST00000406117.6:c.*849+1389C>G ENSP00000384668.2:n.*849+1389C>G
ENST00000423180.2:c.1236C>G ENSP00000397987.2:p.Ala412=
NM_025225.2:c.1248C>G NP_079501.2:p.Ala416=
NM_025225.3:c.1248C>G MANE Select NP_079501.2:p.Ala416=
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