Canonical Allele Identifier: CA2683556166
Gene: SEMA3E HGNC NCBI

Linked Data

gnomAD v4: 7-83392787-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83392787G>A , CM000669.2:g.83392787G>A GRCh38
NC_000007.13:g.83022103G>A , CM000669.1:g.83022103G>A GRCh37
NC_000007.12:g.82860039G>A NCBI36
NG_021242.1:g.261377C>T
NG_021242.2:g.261377C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000427262.6:c.1321-66C>T ENSP00000405052.1:n.1321-66C>T
ENST00000642232.1:c.1501-66C>T ENSP00000494064.1:n.1501-66C>T
ENST00000643230.2:c.1501-66C>T MANE Select ENSP00000496491.1:n.1501-66C>T
ENST00000643441.1:n.1486-66C>T
ENST00000307792.7:c.1501-66C>T ENSP00000303212.3:n.1501-66C>T
ENST00000427262.5:c.1321-66C>T ENSP00000405052.1:n.1321-66C>T
NM_001178129.1:c.1321-66C>T NP_001171600.1:n.1321-66C>T
NM_012431.2:c.1501-66C>T NP_036563.1:n.1501-66C>T
XM_011516715.1:c.1501-66C>T XP_011515017.1:n.1501-66C>T
NM_012431.3:c.1501-66C>T MANE Select NP_036563.1:n.1501-66C>T
NM_001178129.2:c.1321-66C>T NP_001171600.1:n.1321-66C>T