Canonical Allele Identifier: CA367930424
Gene: SEMA3E HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83407219A>G , CM000669.2:g.83407219A>G GRCh38
NC_000007.13:g.83036535A>G , CM000669.1:g.83036535A>G GRCh37
NC_000007.12:g.82874471A>G NCBI36
NG_021242.1:g.246945T>C
NG_021242.2:g.246945T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000427262.6:c.511T>C ENSP00000405052.1:p.Tyr171His
ENST00000642232.1:c.691T>C ENSP00000494064.1:p.Tyr231His
ENST00000643230.2:c.691T>C MANE Select ENSP00000496491.1:p.Tyr231His
ENST00000643441.1:n.676T>C
ENST00000644381.1:n.254T>C
ENST00000307792.7:c.691T>C ENSP00000303212.3:p.Tyr231His
ENST00000427262.5:c.511T>C ENSP00000405052.1:p.Tyr171His
NM_001178129.1:c.511T>C NP_001171600.1:p.Tyr171His
NM_012431.2:c.691T>C NP_036563.1:p.Tyr231His
XM_011516715.1:c.691T>C XP_011515017.1:p.Tyr231His
NM_012431.3:c.691T>C MANE Select NP_036563.1:p.Tyr231His
NM_001178129.2:c.511T>C NP_001171600.1:p.Tyr171His