Canonical Allele Identifier: CA2683556081
Gene: SEMA3E HGNC NCBI

Linked Data

gnomAD v4: 7-83392459-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83392459G>T , CM000669.2:g.83392459G>T GRCh38
NC_000007.13:g.83021775G>T , CM000669.1:g.83021775G>T GRCh37
NC_000007.12:g.82859711G>T NCBI36
NG_021242.1:g.261705C>A
NG_021242.2:g.261705C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000427262.6:c.1487+96C>A ENSP00000405052.1:n.1487+96C>A
ENST00000642232.1:c.1667+96C>A ENSP00000494064.1:n.1667+96C>A
ENST00000643230.2:c.1667+96C>A MANE Select ENSP00000496491.1:n.1667+96C>A
ENST00000643441.1:n.1652+96C>A
ENST00000307792.7:c.1667+96C>A ENSP00000303212.3:n.1667+96C>A
ENST00000427262.5:c.1487+96C>A ENSP00000405052.1:n.1487+96C>A
NM_001178129.1:c.1487+96C>A NP_001171600.1:n.1487+96C>A
NM_012431.2:c.1667+96C>A NP_036563.1:n.1667+96C>A
XM_011516715.1:c.1667+96C>A XP_011515017.1:n.1667+96C>A
NM_012431.3:c.1667+96C>A MANE Select NP_036563.1:n.1667+96C>A
NM_001178129.2:c.1487+96C>A NP_001171600.1:n.1487+96C>A