Canonical Allele Identifier: CA576267009
Gene: SEMA3E HGNC NCBI

Linked Data

dbSNP Id: rs1441649902
gnomAD v2: 7-83022061-C-T
gnomAD v3: 7-83392745-C-T
gnomAD v4: 7-83392745-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83392745C>T , CM000669.2:g.83392745C>T GRCh38
NC_000007.13:g.83022061C>T , CM000669.1:g.83022061C>T GRCh37
NC_000007.12:g.82859997C>T NCBI36
NG_021242.1:g.261419G>A
NG_021242.2:g.261419G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000427262.6:c.1321-24G>A ENSP00000405052.1:n.1321-24G>A
ENST00000642232.1:c.1501-24G>A ENSP00000494064.1:n.1501-24G>A
ENST00000643230.2:c.1501-24G>A MANE Select ENSP00000496491.1:n.1501-24G>A
ENST00000643441.1:n.1486-24G>A
ENST00000307792.7:c.1501-24G>A ENSP00000303212.3:n.1501-24G>A
ENST00000427262.5:c.1321-24G>A ENSP00000405052.1:n.1321-24G>A
NM_001178129.1:c.1321-24G>A NP_001171600.1:n.1321-24G>A
NM_012431.2:c.1501-24G>A NP_036563.1:n.1501-24G>A
XM_011516715.1:c.1501-24G>A XP_011515017.1:n.1501-24G>A
NM_012431.3:c.1501-24G>A MANE Select NP_036563.1:n.1501-24G>A
NM_001178129.2:c.1321-24G>A NP_001171600.1:n.1321-24G>A