Canonical Allele Identifier: CA2657154849
Gene: PNPLA3 HGNC NCBI

Linked Data

gnomAD v4: 22-43946467-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946467T>C , CM000684.2:g.43946467T>C GRCh38
NC_000022.10:g.44342347T>C , CM000684.1:g.44342347T>C GRCh37
NC_000022.9:g.42673680T>C NCBI36
NG_008631.1:g.27729T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.*85T>C MANE Select ENSP00000216180.3:n.*85T>C
ENST00000216180.7:c.*85T>C ENSP00000216180.3:n.*85T>C
ENST00000406117.6:c.*849+1672T>C ENSP00000384668.2:n.*849+1672T>C
ENST00000423180.2:c.*85T>C ENSP00000397987.2:n.*85T>C
NM_025225.2:c.*85T>C NP_079501.2:n.*85T>C
NM_025225.3:c.*85T>C MANE Select NP_079501.2:n.*85T>C
Search 100 bp 5'
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