Canonical Allele Identifier: CA367930447
Gene: SEMA3E HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83407231A>G , CM000669.2:g.83407231A>G GRCh38
NC_000007.13:g.83036547A>G , CM000669.1:g.83036547A>G GRCh37
NC_000007.12:g.82874483A>G NCBI36
NG_021242.1:g.246933T>C
NG_021242.2:g.246933T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000427262.6:c.499T>C ENSP00000405052.1:p.Phe167Leu
ENST00000642232.1:c.679T>C ENSP00000494064.1:p.Phe227Leu
ENST00000643230.2:c.679T>C MANE Select ENSP00000496491.1:p.Phe227Leu
ENST00000643441.1:n.664T>C
ENST00000644381.1:n.242T>C
ENST00000307792.7:c.679T>C ENSP00000303212.3:p.Phe227Leu
ENST00000427262.5:c.499T>C ENSP00000405052.1:p.Phe167Leu
NM_001178129.1:c.499T>C NP_001171600.1:p.Phe167Leu
NM_012431.2:c.679T>C NP_036563.1:p.Phe227Leu
XM_011516715.1:c.679T>C XP_011515017.1:p.Phe227Leu
NM_012431.3:c.679T>C MANE Select NP_036563.1:p.Phe227Leu
NM_001178129.2:c.499T>C NP_001171600.1:p.Phe167Leu