Canonical Allele Identifier: CA161161804
Gene: SEMA3E HGNC NCBI

Linked Data

dbSNP Id: rs890768648
gnomAD v3: 7-83392407-A-T
gnomAD v4: 7-83392407-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83392407A>T , CM000669.2:g.83392407A>T GRCh38
NC_000007.13:g.83021723A>T , CM000669.1:g.83021723A>T GRCh37
NC_000007.12:g.82859659A>T NCBI36
NG_021242.1:g.261757T>A
NG_021242.2:g.261757T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000427262.6:c.1487+148T>A ENSP00000405052.1:n.1487+148T>A
ENST00000642232.1:c.1667+148T>A ENSP00000494064.1:n.1667+148T>A
ENST00000643230.2:c.1667+148T>A MANE Select ENSP00000496491.1:n.1667+148T>A
ENST00000643441.1:n.1652+148T>A
ENST00000307792.7:c.1667+148T>A ENSP00000303212.3:n.1667+148T>A
ENST00000427262.5:c.1487+148T>A ENSP00000405052.1:n.1487+148T>A
NM_001178129.1:c.1487+148T>A NP_001171600.1:n.1487+148T>A
NM_012431.2:c.1667+148T>A NP_036563.1:n.1667+148T>A
XM_011516715.1:c.1667+148T>A XP_011515017.1:n.1667+148T>A
NM_012431.3:c.1667+148T>A MANE Select NP_036563.1:n.1667+148T>A
NM_001178129.2:c.1487+148T>A NP_001171600.1:n.1487+148T>A