Canonical Allele Identifier: CA408119098

Gene: MAVS

Linked Data

• MyVariant Identifiers: chr20:g.3838406T>A (hg19) ; chr20:g.3857759T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857759T>A , CM000682.2:g.3857759T>A	GRCh38
NC_000020.10:g.3838406T>A , CM000682.1:g.3838406T>A	GRCh37
NC_000020.9:g.3786406T>A	NCBI36
NG_030028.1:g.15961T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428216.4:c.242T>A MANE Select	ENSP00000401980.2:p.Leu81Gln
ENST00000416600.6:c.-132+3018T>A	ENSP00000413749.2:n.-132+3018T>A
ENST00000428216.3:c.242T>A	ENSP00000401980.2:p.Leu81Gln
NM_001206491.1:c.-132+3018T>A	NP_001193420.1:n.-132+3018T>A
NM_020746.4:c.242T>A	NP_065797.2:p.Leu81Gln
NR_037921.1:n.414T>A
NM_020746.5:c.242T>A MANE Select	NP_065797.2:p.Leu81Gln
NR_037921.2:n.379T>A
NM_001206491.2:c.-132+3018T>A	NP_001193420.1:n.-132+3018T>A
NM_001385663.1:c.-306T>A	NP_001372592.1:n.-306T>A