Canonical Allele Identifier: CA408119109
Gene: MAVS HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000428216.4:c.247G>C MANE Select ENSP00000401980.2:p.Asp83His
ENST00000416600.6:c.-132+3023G>C ENSP00000413749.2:n.-132+3023G>C
ENST00000428216.3:c.247G>C ENSP00000401980.2:p.Asp83His
NM_001206491.1:c.-132+3023G>C NP_001193420.1:n.-132+3023G>C
NM_020746.4:c.247G>C NP_065797.2:p.Asp83His
NR_037921.1:n.419G>C
NM_020746.5:c.247G>C MANE Select NP_065797.2:p.Asp83His
NR_037921.2:n.384G>C
NM_001206491.2:c.-132+3023G>C NP_001193420.1:n.-132+3023G>C
NM_001385663.1:c.-301G>C NP_001372592.1:n.-301G>C