Canonical Allele Identifier: CA2683557400
Gene: SEMA3E HGNC NCBI

Linked Data

gnomAD v4: 7-83407066-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83407066T>C , CM000669.2:g.83407066T>C GRCh38
NC_000007.13:g.83036382T>C , CM000669.1:g.83036382T>C GRCh37
NC_000007.12:g.82874318T>C NCBI36
NG_021242.1:g.247098A>G
NG_021242.2:g.247098A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000427262.6:c.633+31A>G ENSP00000405052.1:n.633+31A>G
ENST00000642232.1:c.813+31A>G ENSP00000494064.1:n.813+31A>G
ENST00000643230.2:c.813+31A>G MANE Select ENSP00000496491.1:n.813+31A>G
ENST00000643441.1:n.798+31A>G
ENST00000307792.7:c.813+31A>G ENSP00000303212.3:n.813+31A>G
ENST00000427262.5:c.633+31A>G ENSP00000405052.1:n.633+31A>G
NM_001178129.1:c.633+31A>G NP_001171600.1:n.633+31A>G
NM_012431.2:c.813+31A>G NP_036563.1:n.813+31A>G
XM_011516715.1:c.813+31A>G XP_011515017.1:n.813+31A>G
NM_012431.3:c.813+31A>G MANE Select NP_036563.1:n.813+31A>G
NM_001178129.2:c.633+31A>G NP_001171600.1:n.633+31A>G