Canonical Allele Identifier: CA408119180
Gene: MAVS HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.3838446C>A (hg19) chr20:g.3857799C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3857799C>A , CM000682.2:g.3857799C>A GRCh38
NC_000020.10:g.3838446C>A , CM000682.1:g.3838446C>A GRCh37
NC_000020.9:g.3786446C>A NCBI36
NG_030028.1:g.16001C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000428216.4:c.282C>A MANE Select ENSP00000401980.2:p.Ser94Arg
ENST00000416600.6:c.-132+3058C>A ENSP00000413749.2:n.-132+3058C>A
ENST00000428216.3:c.282C>A ENSP00000401980.2:p.Ser94Arg
NM_001206491.1:c.-132+3058C>A NP_001193420.1:n.-132+3058C>A
NM_020746.4:c.282C>A NP_065797.2:p.Ser94Arg
NR_037921.1:n.454C>A
NM_020746.5:c.282C>A MANE Select NP_065797.2:p.Ser94Arg
NR_037921.2:n.419C>A
NM_001206491.2:c.-132+3058C>A NP_001193420.1:n.-132+3058C>A
NM_001385663.1:c.-266C>A NP_001372592.1:n.-266C>A
Search 100 bp 5'
Search 100 bp 3'