Canonical Allele Identifier: CA2657154861
Gene: PNPLA3 HGNC NCBI

Linked Data

gnomAD v4: 22-43946477-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946477T>G , CM000684.2:g.43946477T>G GRCh38
NC_000022.10:g.44342357T>G , CM000684.1:g.44342357T>G GRCh37
NC_000022.9:g.42673690T>G NCBI36
NG_008631.1:g.27739T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.*95T>G MANE Select ENSP00000216180.3:n.*95T>G
ENST00000216180.7:c.*95T>G ENSP00000216180.3:n.*95T>G
ENST00000406117.6:c.*849+1682T>G ENSP00000384668.2:n.*849+1682T>G
ENST00000423180.2:c.*95T>G ENSP00000397987.2:n.*95T>G
NM_025225.2:c.*95T>G NP_079501.2:n.*95T>G
NM_025225.3:c.*95T>G MANE Select NP_079501.2:n.*95T>G
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