Canonical Allele Identifier: CA2577772149

Gene: PNPLA3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43946438C>T , CM000684.2:g.43946438C>T	GRCh38
NC_000022.10:g.44342318C>T , CM000684.1:g.44342318C>T	GRCh37
NC_000022.9:g.42673651C>T	NCBI36
NG_008631.1:g.27700C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.*56C>T MANE Select	ENSP00000216180.3:n.*56C>T
ENST00000216180.7:c.*56C>T	ENSP00000216180.3:n.*56C>T
ENST00000406117.6:c.*849+1643C>T	ENSP00000384668.2:n.*849+1643C>T
ENST00000423180.2:c.*56C>T	ENSP00000397987.2:n.*56C>T
NM_025225.2:c.*56C>T	NP_079501.2:n.*56C>T
NM_025225.3:c.*56C>T MANE Select	NP_079501.2:n.*56C>T