Canonical Allele Identifier: CA408119108
Gene: MAVS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3857764G>A , CM000682.2:g.3857764G>A GRCh38
NC_000020.10:g.3838411G>A , CM000682.1:g.3838411G>A GRCh37
NC_000020.9:g.3786411G>A NCBI36
NG_030028.1:g.15966G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000428216.4:c.247G>A MANE Select ENSP00000401980.2:p.Asp83Asn
ENST00000416600.6:c.-132+3023G>A ENSP00000413749.2:n.-132+3023G>A
ENST00000428216.3:c.247G>A ENSP00000401980.2:p.Asp83Asn
NM_001206491.1:c.-132+3023G>A NP_001193420.1:n.-132+3023G>A
NM_020746.4:c.247G>A NP_065797.2:p.Asp83Asn
NR_037921.1:n.419G>A
NM_020746.5:c.247G>A MANE Select NP_065797.2:p.Asp83Asn
NR_037921.2:n.384G>A
NM_001206491.2:c.-132+3023G>A NP_001193420.1:n.-132+3023G>A
NM_001385663.1:c.-301G>A NP_001372592.1:n.-301G>A