Canonical Allele Identifier: CA367930244
Gene: SEMA3E HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83407142T>G , CM000669.2:g.83407142T>G GRCh38
NC_000007.13:g.83036458T>G , CM000669.1:g.83036458T>G GRCh37
NC_000007.12:g.82874394T>G NCBI36
NG_021242.1:g.247022A>C
NG_021242.2:g.247022A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000427262.6:c.588A>C ENSP00000405052.1:p.Glu196Asp
ENST00000642232.1:c.768A>C ENSP00000494064.1:p.Glu256Asp
ENST00000643230.2:c.768A>C MANE Select ENSP00000496491.1:p.Glu256Asp
ENST00000643441.1:n.753A>C
ENST00000644381.1:n.331A>C
ENST00000307792.7:c.768A>C ENSP00000303212.3:p.Glu256Asp
ENST00000427262.5:c.588A>C ENSP00000405052.1:p.Glu196Asp
NM_001178129.1:c.588A>C NP_001171600.1:p.Glu196Asp
NM_012431.2:c.768A>C NP_036563.1:p.Glu256Asp
XM_011516715.1:c.768A>C XP_011515017.1:p.Glu256Asp
NM_012431.3:c.768A>C MANE Select NP_036563.1:p.Glu256Asp
NM_001178129.2:c.588A>C NP_001171600.1:p.Glu196Asp