Canonical Allele Identifier: CA507317330
Gene: SYNE4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36497709T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.36006807T>A , CM000681.2:g.36006807T>A GRCh38
NC_000019.9:g.36497709T>A , CM000681.1:g.36497709T>A GRCh37
NC_000019.8:g.41189549T>A NCBI36
NG_042831.1:g.6987A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000324444.9:c.561A>T MANE Select ENSP00000316130.3:p.Arg187=
ENST00000397428.8:c.67-1370A>T
ENST00000465425.2:n.673A>T
ENST00000324444.7:c.561A>T ENSP00000316130.3:p.Arg187=
ENST00000340477.9:c.280-136A>T ENSP00000343152.5:n.280-136A>T
ENST00000397428.7:c.40-1370A>T ENSP00000380572.3:n.40-1370A>T
ENST00000465425.1:n.673A>T
ENST00000490730.1:c.561A>T ENSP00000422716.1:p.Arg187=
ENST00000503121.5:c.242+1410A>T
ENST00000505054.2:n.395-1370A>T
NM_001039876.1:c.561A>T NP_001034965.1:p.Arg187=
NM_001039876.2:c.561A>T NP_001034965.1:p.Arg187=
NM_001297735.1:c.280-136A>T NP_001284664.1:n.280-136A>T
NM_001297735.2:c.280-136A>T NP_001284664.1:n.280-136A>T
XM_005258598.2:c.561A>T XP_005258655.1:p.Arg187=
XM_005258601.2:c.561A>T XP_005258658.1:p.Arg187=
XM_005258604.3:c.561A>T XP_005258661.1:p.Arg187=
NM_001039876.3:c.561A>T MANE Select NP_001034965.1:p.Arg187=
NM_001297735.3:c.280-136A>T NP_001284664.1:n.280-136A>T