Canonical Allele Identifier: CA408119114
Gene: MAVS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3857766T>G , CM000682.2:g.3857766T>G GRCh38
NC_000020.10:g.3838413T>G , CM000682.1:g.3838413T>G GRCh37
NC_000020.9:g.3786413T>G NCBI36
NG_030028.1:g.15968T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000428216.4:c.249T>G MANE Select ENSP00000401980.2:p.Asp83Glu
ENST00000416600.6:c.-132+3025T>G ENSP00000413749.2:n.-132+3025T>G
ENST00000428216.3:c.249T>G ENSP00000401980.2:p.Asp83Glu
NM_001206491.1:c.-132+3025T>G NP_001193420.1:n.-132+3025T>G
NM_020746.4:c.249T>G NP_065797.2:p.Asp83Glu
NR_037921.1:n.421T>G
NM_020746.5:c.249T>G MANE Select NP_065797.2:p.Asp83Glu
NR_037921.2:n.386T>G
NM_001206491.2:c.-132+3025T>G NP_001193420.1:n.-132+3025T>G
NM_001385663.1:c.-299T>G NP_001372592.1:n.-299T>G