Canonical Allele Identifier: CA10278235
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs149925560
ExAC: 22:44342054 G / C
gnomAD v4: 22-43946174-G-C
MyVariant Identifiers: chr22:g.44342054G>C (hg19) chr22:g.43946174G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946174G>C , CM000684.2:g.43946174G>C GRCh38
NC_000022.10:g.44342054G>C , CM000684.1:g.44342054G>C GRCh37
NC_000022.9:g.42673387G>C NCBI36
NG_008631.1:g.27436G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1238G>C MANE Select ENSP00000216180.3:p.Ser413Thr
ENST00000216180.7:c.1238G>C ENSP00000216180.3:p.Ser413Thr
ENST00000406117.6:c.*849+1379G>C ENSP00000384668.2:n.*849+1379G>C
ENST00000423180.2:c.1226G>C ENSP00000397987.2:p.Ser409Thr
NM_025225.2:c.1238G>C NP_079501.2:p.Ser413Thr
NM_025225.3:c.1238G>C MANE Select NP_079501.2:p.Ser413Thr
Search 100 bp 5'
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