Canonical Allele Identifier: CA411860232
Gene: PNPLA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.44324770G>T (hg19) chr22:g.43928890G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928890G>T , CM000684.2:g.43928890G>T GRCh38
NC_000022.10:g.44324770G>T , CM000684.1:g.44324770G>T GRCh37
NC_000022.9:g.42656103G>T NCBI36
NG_008631.1:g.10152G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.486+1G>T MANE Select ENSP00000216180.3:n.486+1G>T
ENST00000216180.7:c.486+1G>T ENSP00000216180.3:n.486+1G>T
ENST00000406117.6:c.*118+1G>T ENSP00000384668.2:n.*118+1G>T
ENST00000423180.2:c.474+1G>T ENSP00000397987.2:n.474+1G>T
ENST00000478713.1:n.520+1G>T
NM_025225.2:c.486+1G>T NP_079501.2:n.486+1G>T
NM_025225.3:c.486+1G>T MANE Select NP_079501.2:n.486+1G>T
Search 100 bp 5'
Search 100 bp 3'