Canonical Allele Identifier: CA367929375
Community Standard Title: NM_012431.3(SEMA3E):c.990C>A (p.Asn330Lys)
Gene: SEMA3E HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83405458G>T , CM000669.2:g.83405458G>T GRCh38
NC_000007.13:g.83034774G>T , CM000669.1:g.83034774G>T GRCh37
NC_000007.12:g.82872710G>T NCBI36
NG_021242.1:g.248706C>A
NG_021242.2:g.248706C>A

Transcript Alleles

HGVS Amino-acid Change
NM_012431.3:c.990C>A MANE Select NP_036563.1:p.Asn330Lys
ENST00000643230.2:c.990C>A MANE Select ENSP00000496491.1:p.Asn330Lys
NM_001178129.1:c.810C>A NP_001171600.1:p.Asn270Lys
NM_001178129.2:c.810C>A NP_001171600.1:p.Asn270Lys
NM_012431.2:c.990C>A NP_036563.1:p.Asn330Lys
ENST00000307792.7:c.990C>A ENSP00000303212.3:p.Asn330Lys
ENST00000427262.5:c.810C>A ENSP00000405052.1:p.Asn270Lys
ENST00000427262.6:c.810C>A ENSP00000405052.1:p.Asn270Lys
ENST00000642232.1:c.990C>A ENSP00000494064.1:p.Asn330Lys
ENST00000643441.1:n.975C>A
XM_011516715.1:c.990C>A XP_011515017.1:p.Asn330Lys