Canonical Allele Identifier: CA408118435
Gene: MAVS HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.3838301G>C (hg19) chr20:g.3857654G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3857654G>C , CM000682.2:g.3857654G>C GRCh38
NC_000020.10:g.3838301G>C , CM000682.1:g.3838301G>C GRCh37
NC_000020.9:g.3786301G>C NCBI36
NG_030028.1:g.15856G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000428216.4:c.137G>C MANE Select ENSP00000401980.2:p.Cys46Ser
ENST00000416600.6:c.-132+2913G>C ENSP00000413749.2:n.-132+2913G>C
ENST00000428216.3:c.137G>C ENSP00000401980.2:p.Cys46Ser
NM_001206491.1:c.-132+2913G>C NP_001193420.1:n.-132+2913G>C
NM_020746.4:c.137G>C NP_065797.2:p.Cys46Ser
NR_037921.1:n.309G>C
NM_020746.5:c.137G>C MANE Select NP_065797.2:p.Cys46Ser
NR_037921.2:n.274G>C
NM_001206491.2:c.-132+2913G>C NP_001193420.1:n.-132+2913G>C
NM_001385663.1:c.-411G>C NP_001372592.1:n.-411G>C
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