Canonical Allele Identifier: CA514856650
Gene: PNPLA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.44324739T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928859T>C , CM000684.2:g.43928859T>C GRCh38
NC_000022.10:g.44324739T>C , CM000684.1:g.44324739T>C GRCh37
NC_000022.9:g.42656072T>C NCBI36
NG_008631.1:g.10121T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.456T>C MANE Select ENSP00000216180.3:p.Ser152=
ENST00000216180.7:c.456T>C ENSP00000216180.3:p.Ser152=
ENST00000406117.6:c.*88T>C ENSP00000384668.2:n.*88T>C
ENST00000423180.2:c.444T>C ENSP00000397987.2:p.Ser148=
ENST00000478713.1:n.490T>C
NM_025225.2:c.456T>C NP_079501.2:p.Ser152=
NM_025225.3:c.456T>C MANE Select NP_079501.2:p.Ser152=
Search 100 bp 5'
Search 100 bp 3'