Canonical Allele Identifier: CA408118458
Gene: MAVS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3857657C>A , CM000682.2:g.3857657C>A GRCh38
NC_000020.10:g.3838304C>A , CM000682.1:g.3838304C>A GRCh37
NC_000020.9:g.3786304C>A NCBI36
NG_030028.1:g.15859C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000428216.4:c.140C>A MANE Select ENSP00000401980.2:p.Thr47Lys
ENST00000416600.6:c.-132+2916C>A ENSP00000413749.2:n.-132+2916C>A
ENST00000428216.3:c.140C>A ENSP00000401980.2:p.Thr47Lys
NM_001206491.1:c.-132+2916C>A NP_001193420.1:n.-132+2916C>A
NM_020746.4:c.140C>A NP_065797.2:p.Thr47Lys
NR_037921.1:n.312C>A
NM_020746.5:c.140C>A MANE Select NP_065797.2:p.Thr47Lys
NR_037921.2:n.277C>A
NM_001206491.2:c.-132+2916C>A NP_001193420.1:n.-132+2916C>A
NM_001385663.1:c.-408C>A NP_001372592.1:n.-408C>A