Canonical Allele Identifier: CA408118524

Gene: MAVS

Linked Data

• MyVariant Identifiers: chr20:g.3838312G>T (hg19) ; chr20:g.3857665G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857665G>T , CM000682.2:g.3857665G>T	GRCh38
NC_000020.10:g.3838312G>T , CM000682.1:g.3838312G>T	GRCh37
NC_000020.9:g.3786312G>T	NCBI36
NG_030028.1:g.15867G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000428216.4:c.148G>T MANE Select	ENSP00000401980.2:p.Gly50Trp
ENST00000416600.6:c.-132+2924G>T	ENSP00000413749.2:n.-132+2924G>T
ENST00000428216.3:c.148G>T	ENSP00000401980.2:p.Gly50Trp
NM_001206491.1:c.-132+2924G>T	NP_001193420.1:n.-132+2924G>T
NM_020746.4:c.148G>T	NP_065797.2:p.Gly50Trp
NR_037921.1:n.320G>T
NM_020746.5:c.148G>T MANE Select	NP_065797.2:p.Gly50Trp
NR_037921.2:n.285G>T
NM_001206491.2:c.-132+2924G>T	NP_001193420.1:n.-132+2924G>T
NM_001385663.1:c.-400G>T	NP_001372592.1:n.-400G>T