Canonical Allele Identifier: CA411860104
Gene: PNPLA3 HGNC NCBI

Linked Data

gnomAD v4: 22-43928831-T-C
MyVariant Identifiers: chr22:g.44324711T>C (hg19) chr22:g.43928831T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928831T>C , CM000684.2:g.43928831T>C GRCh38
NC_000022.10:g.44324711T>C , CM000684.1:g.44324711T>C GRCh37
NC_000022.9:g.42656044T>C NCBI36
NG_008631.1:g.10093T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.428T>C MANE Select ENSP00000216180.3:p.Val143Ala
ENST00000216180.7:c.428T>C ENSP00000216180.3:p.Val143Ala
ENST00000406117.6:c.*60T>C ENSP00000384668.2:n.*60T>C
ENST00000423180.2:c.416T>C ENSP00000397987.2:p.Val139Ala
ENST00000478713.1:n.462T>C
NM_025225.2:c.428T>C NP_079501.2:p.Val143Ala
NM_025225.3:c.428T>C MANE Select NP_079501.2:p.Val143Ala
Search 100 bp 5'
Search 100 bp 3'