Canonical Allele Identifier: CA408118490
Gene: MAVS HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.3838307T>C (hg19) chr20:g.3857660T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3857660T>C , CM000682.2:g.3857660T>C GRCh38
NC_000020.10:g.3838307T>C , CM000682.1:g.3838307T>C GRCh37
NC_000020.9:g.3786307T>C NCBI36
NG_030028.1:g.15862T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000428216.4:c.143T>C MANE Select ENSP00000401980.2:p.Leu48Pro
ENST00000416600.6:c.-132+2919T>C ENSP00000413749.2:n.-132+2919T>C
ENST00000428216.3:c.143T>C ENSP00000401980.2:p.Leu48Pro
NM_001206491.1:c.-132+2919T>C NP_001193420.1:n.-132+2919T>C
NM_020746.4:c.143T>C NP_065797.2:p.Leu48Pro
NR_037921.1:n.315T>C
NM_020746.5:c.143T>C MANE Select NP_065797.2:p.Leu48Pro
NR_037921.2:n.280T>C
NM_001206491.2:c.-132+2919T>C NP_001193420.1:n.-132+2919T>C
NM_001385663.1:c.-405T>C NP_001372592.1:n.-405T>C
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