Canonical Allele Identifier: CA411848137
Gene: PNPLA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.44342242T>C (hg19) chr22:g.43946362T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946362T>C , CM000684.2:g.43946362T>C GRCh38
NC_000022.10:g.44342242T>C , CM000684.1:g.44342242T>C GRCh37
NC_000022.9:g.42673575T>C NCBI36
NG_008631.1:g.27624T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1426T>C MANE Select ENSP00000216180.3:p.Ser476Pro
ENST00000216180.7:c.1426T>C ENSP00000216180.3:p.Ser476Pro
ENST00000406117.6:c.*849+1567T>C ENSP00000384668.2:n.*849+1567T>C
ENST00000423180.2:c.1414T>C ENSP00000397987.2:p.Ser472Pro
NM_025225.2:c.1426T>C NP_079501.2:p.Ser476Pro
NM_025225.3:c.1426T>C MANE Select NP_079501.2:p.Ser476Pro
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