Canonical Allele Identifier: CA1103853862
Gene: SEMA3E HGNC NCBI

Linked Data

gnomAD v3: 7-83407047-C-A
gnomAD v4: 7-83407047-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83407047C>A , CM000669.2:g.83407047C>A GRCh38
NC_000007.13:g.83036363C>A , CM000669.1:g.83036363C>A GRCh37
NC_000007.12:g.82874299C>A NCBI36
NG_021242.1:g.247117G>T
NG_021242.2:g.247117G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000427262.6:c.633+50G>T ENSP00000405052.1:n.633+50G>T
ENST00000642232.1:c.813+50G>T ENSP00000494064.1:n.813+50G>T
ENST00000643230.2:c.813+50G>T MANE Select ENSP00000496491.1:n.813+50G>T
ENST00000643441.1:n.798+50G>T
ENST00000307792.7:c.813+50G>T ENSP00000303212.3:n.813+50G>T
ENST00000427262.5:c.633+50G>T ENSP00000405052.1:n.633+50G>T
NM_001178129.1:c.633+50G>T NP_001171600.1:n.633+50G>T
NM_012431.2:c.813+50G>T NP_036563.1:n.813+50G>T
XM_011516715.1:c.813+50G>T XP_011515017.1:n.813+50G>T
NM_012431.3:c.813+50G>T MANE Select NP_036563.1:n.813+50G>T
NM_001178129.2:c.633+50G>T NP_001171600.1:n.633+50G>T