Canonical Allele Identifier: CA411847480
Gene: PNPLA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.44342065T>G (hg19) chr22:g.43946185T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946185T>G , CM000684.2:g.43946185T>G GRCh38
NC_000022.10:g.44342065T>G , CM000684.1:g.44342065T>G GRCh37
NC_000022.9:g.42673398T>G NCBI36
NG_008631.1:g.27447T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1249T>G MANE Select ENSP00000216180.3:p.Ser417Ala
ENST00000216180.7:c.1249T>G ENSP00000216180.3:p.Ser417Ala
ENST00000406117.6:c.*849+1390T>G ENSP00000384668.2:n.*849+1390T>G
ENST00000423180.2:c.1237T>G ENSP00000397987.2:p.Ser413Ala
NM_025225.2:c.1249T>G NP_079501.2:p.Ser417Ala
NM_025225.3:c.1249T>G MANE Select NP_079501.2:p.Ser417Ala
Search 100 bp 5'
Search 100 bp 3'