Canonical Allele Identifier: CA367930279
Gene: SEMA3E HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83407159T>G , CM000669.2:g.83407159T>G GRCh38
NC_000007.13:g.83036475T>G , CM000669.1:g.83036475T>G GRCh37
NC_000007.12:g.82874411T>G NCBI36
NG_021242.1:g.247005A>C
NG_021242.2:g.247005A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000427262.6:c.571A>C ENSP00000405052.1:p.Lys191Gln
ENST00000642232.1:c.751A>C ENSP00000494064.1:p.Lys251Gln
ENST00000643230.2:c.751A>C MANE Select ENSP00000496491.1:p.Lys251Gln
ENST00000643441.1:n.736A>C
ENST00000644381.1:n.314A>C
ENST00000307792.7:c.751A>C ENSP00000303212.3:p.Lys251Gln
ENST00000427262.5:c.571A>C ENSP00000405052.1:p.Lys191Gln
NM_001178129.1:c.571A>C NP_001171600.1:p.Lys191Gln
NM_012431.2:c.751A>C NP_036563.1:p.Lys251Gln
XM_011516715.1:c.751A>C XP_011515017.1:p.Lys251Gln
NM_012431.3:c.751A>C MANE Select NP_036563.1:p.Lys251Gln
NM_001178129.2:c.571A>C NP_001171600.1:p.Lys191Gln