Canonical Allele Identifier: CA2346769665
Gene: MAVS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3857659C= , CM000682.2:g.3857659C= GRCh38
NC_000020.10:g.3838306C= , CM000682.1:g.3838306C= GRCh37
NC_000020.9:g.3786306C= NCBI36
NG_030028.1:g.15861C=

Transcript Alleles

HGVS Amino-acid change
ENST00000428216.4:c.142C= MANE Select ENSP00000401980.2:p.Leu48=
ENST00000416600.6:c.-132+2918C= ENSP00000413749.2:n.-132+2918C=
ENST00000428216.3:c.142C= ENSP00000401980.2:p.Leu48=
NM_001206491.1:c.-132+2918C= NP_001193420.1:n.-132+2918C=
NM_020746.4:c.142C= NP_065797.2:p.Leu48=
NR_037921.1:n.314C=
NM_020746.5:c.142C= MANE Select NP_065797.2:p.Leu48=
NR_037921.2:n.279C=
NM_001206491.2:c.-132+2918C= NP_001193420.1:n.-132+2918C=
NM_001385663.1:c.-406C= NP_001372592.1:n.-406C=