Canonical Allele Identifier: CA2683556175
Gene: SEMA3E HGNC NCBI

Linked Data

gnomAD v4: 7-83392811-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83392811C>A , CM000669.2:g.83392811C>A GRCh38
NC_000007.13:g.83022127C>A , CM000669.1:g.83022127C>A GRCh37
NC_000007.12:g.82860063C>A NCBI36
NG_021242.1:g.261353G>T
NG_021242.2:g.261353G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000427262.6:c.1321-90G>T ENSP00000405052.1:n.1321-90G>T
ENST00000642232.1:c.1501-90G>T ENSP00000494064.1:n.1501-90G>T
ENST00000643230.2:c.1501-90G>T MANE Select ENSP00000496491.1:n.1501-90G>T
ENST00000643441.1:n.1486-90G>T
ENST00000307792.7:c.1501-90G>T ENSP00000303212.3:n.1501-90G>T
ENST00000427262.5:c.1321-90G>T ENSP00000405052.1:n.1321-90G>T
NM_001178129.1:c.1321-90G>T NP_001171600.1:n.1321-90G>T
NM_012431.2:c.1501-90G>T NP_036563.1:n.1501-90G>T
XM_011516715.1:c.1501-90G>T XP_011515017.1:n.1501-90G>T
NM_012431.3:c.1501-90G>T MANE Select NP_036563.1:n.1501-90G>T
NM_001178129.2:c.1321-90G>T NP_001171600.1:n.1321-90G>T