Canonical Allele Identifier: CA405432807
Gene: SYNE4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.36006637A>G , CM000681.2:g.36006637A>G GRCh38
NC_000019.9:g.36497539A>G , CM000681.1:g.36497539A>G GRCh37
NC_000019.8:g.41189379A>G NCBI36
NG_042831.1:g.7157T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000324444.9:c.653T>C MANE Select ENSP00000316130.3:p.Leu218Ser
ENST00000397428.8:c.67-1200T>C
ENST00000465425.2:n.765T>C
ENST00000324444.7:c.653T>C ENSP00000316130.3:p.Leu218Ser
ENST00000340477.9:c.314T>C ENSP00000343152.5:p.Leu105Ser
ENST00000397428.7:c.40-1200T>C ENSP00000380572.3:n.40-1200T>C
ENST00000465425.1:n.765T>C
ENST00000490730.1:c.653T>C ENSP00000422716.1:p.Leu218Ser
ENST00000503121.5:c.242+1580T>C
ENST00000505054.2:n.395-1200T>C
NM_001039876.1:c.653T>C NP_001034965.1:p.Leu218Ser
NM_001039876.2:c.653T>C NP_001034965.1:p.Leu218Ser
NM_001297735.1:c.314T>C NP_001284664.1:p.Leu105Ser
NM_001297735.2:c.314T>C NP_001284664.1:p.Leu105Ser
XM_005258598.2:c.653T>C XP_005258655.1:p.Leu218Ser
XM_005258601.2:c.618+113T>C XP_005258658.1:n.618+113T>C
XM_005258604.3:c.653T>C XP_005258661.1:p.Leu218Ser
NM_001039876.3:c.653T>C MANE Select NP_001034965.1:p.Leu218Ser
NM_001297735.3:c.314T>C NP_001284664.1:p.Leu105Ser