Canonical Allele Identifier: CA408119177
Gene: MAVS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3857798G>A , CM000682.2:g.3857798G>A GRCh38
NC_000020.10:g.3838445G>A , CM000682.1:g.3838445G>A GRCh37
NC_000020.9:g.3786445G>A NCBI36
NG_030028.1:g.16000G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000428216.4:c.281G>A MANE Select ENSP00000401980.2:p.Ser94Asn
ENST00000416600.6:c.-132+3057G>A ENSP00000413749.2:n.-132+3057G>A
ENST00000428216.3:c.281G>A ENSP00000401980.2:p.Ser94Asn
NM_001206491.1:c.-132+3057G>A NP_001193420.1:n.-132+3057G>A
NM_020746.4:c.281G>A NP_065797.2:p.Ser94Asn
NR_037921.1:n.453G>A
NM_020746.5:c.281G>A MANE Select NP_065797.2:p.Ser94Asn
NR_037921.2:n.418G>A
NM_001206491.2:c.-132+3057G>A NP_001193420.1:n.-132+3057G>A
NM_001385663.1:c.-267G>A NP_001372592.1:n.-267G>A