Canonical Allele Identifier: CA408119112

Gene: MAVS

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428216.4:c.248A>C MANE Select	ENSP00000401980.2:p.Asp83Ala
ENST00000416600.6:c.-132+3024A>C	ENSP00000413749.2:n.-132+3024A>C
ENST00000428216.3:c.248A>C	ENSP00000401980.2:p.Asp83Ala
NM_001206491.1:c.-132+3024A>C	NP_001193420.1:n.-132+3024A>C
NM_020746.4:c.248A>C	NP_065797.2:p.Asp83Ala
NR_037921.1:n.420A>C
NM_020746.5:c.248A>C MANE Select	NP_065797.2:p.Asp83Ala
NR_037921.2:n.385A>C
NM_001206491.2:c.-132+3024A>C	NP_001193420.1:n.-132+3024A>C
NM_001385663.1:c.-300A>C	NP_001372592.1:n.-300A>C