Canonical Allele Identifier: CA408119111

Gene: MAVS

Linked Data

• MyVariant Identifiers: chr20:g.3838412A>T (hg19) ; chr20:g.3857765A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857765A>T , CM000682.2:g.3857765A>T	GRCh38
NC_000020.10:g.3838412A>T , CM000682.1:g.3838412A>T	GRCh37
NC_000020.9:g.3786412A>T	NCBI36
NG_030028.1:g.15967A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428216.4:c.248A>T MANE Select	ENSP00000401980.2:p.Asp83Val
ENST00000416600.6:c.-132+3024A>T	ENSP00000413749.2:n.-132+3024A>T
ENST00000428216.3:c.248A>T	ENSP00000401980.2:p.Asp83Val
NM_001206491.1:c.-132+3024A>T	NP_001193420.1:n.-132+3024A>T
NM_020746.4:c.248A>T	NP_065797.2:p.Asp83Val
NR_037921.1:n.420A>T
NM_020746.5:c.248A>T MANE Select	NP_065797.2:p.Asp83Val
NR_037921.2:n.385A>T
NM_001206491.2:c.-132+3024A>T	NP_001193420.1:n.-132+3024A>T
NM_001385663.1:c.-300A>T	NP_001372592.1:n.-300A>T