Canonical Allele Identifier: CA2657154853
Gene: PNPLA3 HGNC NCBI

Linked Data

gnomAD v4: 22-43946472-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946472A>T , CM000684.2:g.43946472A>T GRCh38
NC_000022.10:g.44342352A>T , CM000684.1:g.44342352A>T GRCh37
NC_000022.9:g.42673685A>T NCBI36
NG_008631.1:g.27734A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.*90A>T MANE Select ENSP00000216180.3:n.*90A>T
ENST00000216180.7:c.*90A>T ENSP00000216180.3:n.*90A>T
ENST00000406117.6:c.*849+1677A>T ENSP00000384668.2:n.*849+1677A>T
ENST00000423180.2:c.*90A>T ENSP00000397987.2:n.*90A>T
NM_025225.2:c.*90A>T NP_079501.2:n.*90A>T
NM_025225.3:c.*90A>T MANE Select NP_079501.2:n.*90A>T
Search 100 bp 5'
Search 100 bp 3'