Canonical Allele Identifier: CA507317401
Gene: SYNE4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36497565C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.36006663C>T , CM000681.2:g.36006663C>T GRCh38
NC_000019.9:g.36497565C>T , CM000681.1:g.36497565C>T GRCh37
NC_000019.8:g.41189405C>T NCBI36
NG_042831.1:g.7131G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000324444.9:c.627G>A MANE Select ENSP00000316130.3:p.Glu209=
ENST00000397428.8:c.67-1226G>A
ENST00000465425.2:n.739G>A
ENST00000324444.7:c.627G>A ENSP00000316130.3:p.Glu209=
ENST00000340477.9:c.288G>A ENSP00000343152.5:p.Glu96=
ENST00000397428.7:c.40-1226G>A ENSP00000380572.3:n.40-1226G>A
ENST00000465425.1:n.739G>A
ENST00000490730.1:c.627G>A ENSP00000422716.1:p.Glu209=
ENST00000503121.5:c.242+1554G>A
ENST00000505054.2:n.395-1226G>A
NM_001039876.1:c.627G>A NP_001034965.1:p.Glu209=
NM_001039876.2:c.627G>A NP_001034965.1:p.Glu209=
NM_001297735.1:c.288G>A NP_001284664.1:p.Glu96=
NM_001297735.2:c.288G>A NP_001284664.1:p.Glu96=
XM_005258598.2:c.627G>A XP_005258655.1:p.Glu209=
XM_005258601.2:c.618+87G>A XP_005258658.1:n.618+87G>A
XM_005258604.3:c.627G>A XP_005258661.1:p.Glu209=
NM_001039876.3:c.627G>A MANE Select NP_001034965.1:p.Glu209=
NM_001297735.3:c.288G>A NP_001284664.1:p.Glu96=