Canonical Allele Identifier: CA509425232
Gene: MAVS HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.3838311A>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3857664A>C , CM000682.2:g.3857664A>C GRCh38
NC_000020.10:g.3838311A>C , CM000682.1:g.3838311A>C GRCh37
NC_000020.9:g.3786311A>C NCBI36
NG_030028.1:g.15866A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000428216.4:c.147A>C MANE Select ENSP00000401980.2:p.Ser49=
ENST00000416600.6:c.-132+2923A>C ENSP00000413749.2:n.-132+2923A>C
ENST00000428216.3:c.147A>C ENSP00000401980.2:p.Ser49=
NM_001206491.1:c.-132+2923A>C NP_001193420.1:n.-132+2923A>C
NM_020746.4:c.147A>C NP_065797.2:p.Ser49=
NR_037921.1:n.319A>C
NM_020746.5:c.147A>C MANE Select NP_065797.2:p.Ser49=
NR_037921.2:n.284A>C
NM_001206491.2:c.-132+2923A>C NP_001193420.1:n.-132+2923A>C
NM_001385663.1:c.-401A>C NP_001372592.1:n.-401A>C
Search 100 bp 5'
Search 100 bp 3'