Canonical Allele Identifier: CA2407489762
Gene: PNPLA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946455C= , CM000684.2:g.43946455C= GRCh38
NC_000022.10:g.44342335C= , CM000684.1:g.44342335C= GRCh37
NC_000022.9:g.42673668C= NCBI36
NG_008631.1:g.27717C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.*73C= MANE Select ENSP00000216180.3:n.*73C=
ENST00000216180.7:c.*73C= ENSP00000216180.3:n.*73C=
ENST00000406117.6:c.*849+1660C= ENSP00000384668.2:n.*849+1660C=
ENST00000423180.2:c.*73C= ENSP00000397987.2:n.*73C=
NM_025225.2:c.*73C= NP_079501.2:n.*73C=
NM_025225.3:c.*73C= MANE Select NP_079501.2:n.*73C=