Canonical Allele Identifier: CA408118447
Gene: MAVS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3857656A>C , CM000682.2:g.3857656A>C GRCh38
NC_000020.10:g.3838303A>C , CM000682.1:g.3838303A>C GRCh37
NC_000020.9:g.3786303A>C NCBI36
NG_030028.1:g.15858A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000428216.4:c.139A>C MANE Select ENSP00000401980.2:p.Thr47Pro
ENST00000416600.6:c.-132+2915A>C ENSP00000413749.2:n.-132+2915A>C
ENST00000428216.3:c.139A>C ENSP00000401980.2:p.Thr47Pro
NM_001206491.1:c.-132+2915A>C NP_001193420.1:n.-132+2915A>C
NM_020746.4:c.139A>C NP_065797.2:p.Thr47Pro
NR_037921.1:n.311A>C
NM_020746.5:c.139A>C MANE Select NP_065797.2:p.Thr47Pro
NR_037921.2:n.276A>C
NM_001206491.2:c.-132+2915A>C NP_001193420.1:n.-132+2915A>C
NM_001385663.1:c.-409A>C NP_001372592.1:n.-409A>C