Canonical Allele Identifier: CA456133486
Gene: SEMA3E HGNC NCBI

Linked Data

dbSNP Id: rs1428803724
gnomAD v2: 7-83021963-A-T
gnomAD v4: 7-83392647-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83392647A>T , CM000669.2:g.83392647A>T GRCh38
NC_000007.13:g.83021963A>T , CM000669.1:g.83021963A>T GRCh37
NC_000007.12:g.82859899A>T NCBI36
NG_021242.1:g.261517T>A
NG_021242.2:g.261517T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000427262.6:c.1395T>A ENSP00000405052.1:p.Ala465=
ENST00000642232.1:c.1575T>A ENSP00000494064.1:p.Ala525=
ENST00000643230.2:c.1575T>A MANE Select ENSP00000496491.1:p.Ala525=
ENST00000643441.1:n.1560T>A
ENST00000307792.7:c.1575T>A ENSP00000303212.3:p.Ala525=
ENST00000427262.5:c.1395T>A ENSP00000405052.1:p.Ala465=
NM_001178129.1:c.1395T>A NP_001171600.1:p.Ala465=
NM_012431.2:c.1575T>A NP_036563.1:p.Ala525=
XM_011516715.1:c.1575T>A XP_011515017.1:p.Ala525=
NM_012431.3:c.1575T>A MANE Select NP_036563.1:p.Ala525=
NM_001178129.2:c.1395T>A NP_001171600.1:p.Ala465=