Canonical Allele Identifier: CA509425315
Gene: MAVS HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.3838405C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3857758C>T , CM000682.2:g.3857758C>T GRCh38
NC_000020.10:g.3838405C>T , CM000682.1:g.3838405C>T GRCh37
NC_000020.9:g.3786405C>T NCBI36
NG_030028.1:g.15960C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000428216.4:c.241C>T MANE Select ENSP00000401980.2:p.Leu81=
ENST00000416600.6:c.-132+3017C>T ENSP00000413749.2:n.-132+3017C>T
ENST00000428216.3:c.241C>T ENSP00000401980.2:p.Leu81=
NM_001206491.1:c.-132+3017C>T NP_001193420.1:n.-132+3017C>T
NM_020746.4:c.241C>T NP_065797.2:p.Leu81=
NR_037921.1:n.413C>T
NM_020746.5:c.241C>T MANE Select NP_065797.2:p.Leu81=
NR_037921.2:n.378C>T
NM_001206491.2:c.-132+3017C>T NP_001193420.1:n.-132+3017C>T
NM_001385663.1:c.-307C>T NP_001372592.1:n.-307C>T