Canonical Allele Identifier: CA2657154823
Gene: PNPLA3 HGNC NCBI

Linked Data

gnomAD v4: 22-43946437-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946437T>G , CM000684.2:g.43946437T>G GRCh38
NC_000022.10:g.44342317T>G , CM000684.1:g.44342317T>G GRCh37
NC_000022.9:g.42673650T>G NCBI36
NG_008631.1:g.27699T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.*55T>G MANE Select ENSP00000216180.3:n.*55T>G
ENST00000216180.7:c.*55T>G ENSP00000216180.3:n.*55T>G
ENST00000406117.6:c.*849+1642T>G ENSP00000384668.2:n.*849+1642T>G
ENST00000423180.2:c.*55T>G ENSP00000397987.2:n.*55T>G
NM_025225.2:c.*55T>G NP_079501.2:n.*55T>G
NM_025225.3:c.*55T>G MANE Select NP_079501.2:n.*55T>G
Search 100 bp 5'
Search 100 bp 3'