Canonical Allele Identifier: CA4321958
Gene: SEMA3E HGNC NCBI

Linked Data

dbSNP Id: rs757971100
gnomAD v2: 7-83021871-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83392555C>G , CM000669.2:g.83392555C>G GRCh38
NC_000007.13:g.83021871C>G , CM000669.1:g.83021871C>G GRCh37
NC_000007.12:g.82859807C>G NCBI36
NG_021242.1:g.261609G>C
NG_021242.2:g.261609G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000427262.6:c.1487G>C ENSP00000405052.1:p.Arg496Thr
ENST00000642232.1:c.1667G>C ENSP00000494064.1:p.Arg556Thr
ENST00000643230.2:c.1667G>C MANE Select ENSP00000496491.1:p.Arg556Thr
ENST00000643441.1:n.1652G>C
ENST00000307792.7:c.1667G>C ENSP00000303212.3:p.Arg556Thr
ENST00000427262.5:c.1487G>C ENSP00000405052.1:p.Arg496Thr
NM_001178129.1:c.1487G>C NP_001171600.1:p.Arg496Thr
NM_012431.2:c.1667G>C NP_036563.1:p.Arg556Thr
XM_011516715.1:c.1667G>C XP_011515017.1:p.Arg556Thr
NM_012431.3:c.1667G>C MANE Select NP_036563.1:p.Arg556Thr
NM_001178129.2:c.1487G>C NP_001171600.1:p.Arg496Thr