Canonical Allele Identifier: CA4322176
Community Standard Title: NM_012431.3(SEMA3E):c.900T>C (p.Asn300=)
Gene: SEMA3E HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83405973A>G , CM000669.2:g.83405973A>G GRCh38
NC_000007.13:g.83035289A>G , CM000669.1:g.83035289A>G GRCh37
NC_000007.12:g.82873225A>G NCBI36
NG_021242.1:g.248191T>C
NG_021242.2:g.248191T>C

Transcript Alleles

HGVS Amino-acid Change
NM_012431.3:c.900T>C MANE Select NP_036563.1:p.Asn300=
ENST00000643230.2:c.900T>C MANE Select ENSP00000496491.1:p.Asn300=
NM_001178129.1:c.720T>C NP_001171600.1:p.Asn240=
NM_001178129.2:c.720T>C NP_001171600.1:p.Asn240=
NM_012431.2:c.900T>C NP_036563.1:p.Asn300=
ENST00000307792.7:c.900T>C ENSP00000303212.3:p.Asn300=
ENST00000427262.5:c.720T>C ENSP00000405052.1:p.Asn240=
ENST00000427262.6:c.720T>C ENSP00000405052.1:p.Asn240=
ENST00000642232.1:c.900T>C ENSP00000494064.1:p.Asn300=
ENST00000643441.1:n.885T>C
XM_011516715.1:c.900T>C XP_011515017.1:p.Asn300=