Canonical Allele Identifier: CA367923255
Gene: SEMA3E HGNC NCBI

Linked Data

dbSNP Id: rs1788040788

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83392622C>G , CM000669.2:g.83392622C>G GRCh38
NC_000007.13:g.83021938C>G , CM000669.1:g.83021938C>G GRCh37
NC_000007.12:g.82859874C>G NCBI36
NG_021242.1:g.261542G>C
NG_021242.2:g.261542G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000427262.6:c.1420G>C ENSP00000405052.1:p.Asp474His
ENST00000642232.1:c.1600G>C ENSP00000494064.1:p.Asp534His
ENST00000643230.2:c.1600G>C MANE Select ENSP00000496491.1:p.Asp534His
ENST00000643441.1:n.1585G>C
ENST00000307792.7:c.1600G>C ENSP00000303212.3:p.Asp534His
ENST00000427262.5:c.1420G>C ENSP00000405052.1:p.Asp474His
NM_001178129.1:c.1420G>C NP_001171600.1:p.Asp474His
NM_012431.2:c.1600G>C NP_036563.1:p.Asp534His
XM_011516715.1:c.1600G>C XP_011515017.1:p.Asp534His
NM_012431.3:c.1600G>C MANE Select NP_036563.1:p.Asp534His
NM_001178129.2:c.1420G>C NP_001171600.1:p.Asp474His