Canonical Allele Identifier: CA408118439
Gene: MAVS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3857654G>A , CM000682.2:g.3857654G>A GRCh38
NC_000020.10:g.3838301G>A , CM000682.1:g.3838301G>A GRCh37
NC_000020.9:g.3786301G>A NCBI36
NG_030028.1:g.15856G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000428216.4:c.137G>A MANE Select ENSP00000401980.2:p.Cys46Tyr
ENST00000416600.6:c.-132+2913G>A ENSP00000413749.2:n.-132+2913G>A
ENST00000428216.3:c.137G>A ENSP00000401980.2:p.Cys46Tyr
NM_001206491.1:c.-132+2913G>A NP_001193420.1:n.-132+2913G>A
NM_020746.4:c.137G>A NP_065797.2:p.Cys46Tyr
NR_037921.1:n.309G>A
NM_020746.5:c.137G>A MANE Select NP_065797.2:p.Cys46Tyr
NR_037921.2:n.274G>A
NM_001206491.2:c.-132+2913G>A NP_001193420.1:n.-132+2913G>A
NM_001385663.1:c.-411G>A NP_001372592.1:n.-411G>A