Canonical Allele Identifier: CA2683556146
Gene: SEMA3E HGNC NCBI

Linked Data

gnomAD v4: 7-83392752-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83392752A>G , CM000669.2:g.83392752A>G GRCh38
NC_000007.13:g.83022068A>G , CM000669.1:g.83022068A>G GRCh37
NC_000007.12:g.82860004A>G NCBI36
NG_021242.1:g.261412T>C
NG_021242.2:g.261412T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000427262.6:c.1321-31T>C ENSP00000405052.1:n.1321-31T>C
ENST00000642232.1:c.1501-31T>C ENSP00000494064.1:n.1501-31T>C
ENST00000643230.2:c.1501-31T>C MANE Select ENSP00000496491.1:n.1501-31T>C
ENST00000643441.1:n.1486-31T>C
ENST00000307792.7:c.1501-31T>C ENSP00000303212.3:n.1501-31T>C
ENST00000427262.5:c.1321-31T>C ENSP00000405052.1:n.1321-31T>C
NM_001178129.1:c.1321-31T>C NP_001171600.1:n.1321-31T>C
NM_012431.2:c.1501-31T>C NP_036563.1:n.1501-31T>C
XM_011516715.1:c.1501-31T>C XP_011515017.1:n.1501-31T>C
NM_012431.3:c.1501-31T>C MANE Select NP_036563.1:n.1501-31T>C
NM_001178129.2:c.1321-31T>C NP_001171600.1:n.1321-31T>C
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