Canonical Allele Identifier: CA367923618

Gene: SEMA3E

Linked Data

• MyVariant Identifiers: chr7:g.83022012G>A (hg19) ; chr7:g.83392696G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83392696G>A , CM000669.2:g.83392696G>A	GRCh38
NC_000007.13:g.83022012G>A , CM000669.1:g.83022012G>A	GRCh37
NC_000007.12:g.82859948G>A	NCBI36
NG_021242.1:g.261468C>T
NG_021242.2:g.261468C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.1346C>T	ENSP00000405052.1:p.Ser449Phe
ENST00000642232.1:c.1526C>T	ENSP00000494064.1:p.Ser509Phe
ENST00000643230.2:c.1526C>T MANE Select	ENSP00000496491.1:p.Ser509Phe
ENST00000643441.1:n.1511C>T
ENST00000307792.7:c.1526C>T	ENSP00000303212.3:p.Ser509Phe
ENST00000427262.5:c.1346C>T	ENSP00000405052.1:p.Ser449Phe
NM_001178129.1:c.1346C>T	NP_001171600.1:p.Ser449Phe
NM_012431.2:c.1526C>T	NP_036563.1:p.Ser509Phe
XM_011516715.1:c.1526C>T	XP_011515017.1:p.Ser509Phe
NM_012431.3:c.1526C>T MANE Select	NP_036563.1:p.Ser509Phe
NM_001178129.2:c.1346C>T	NP_001171600.1:p.Ser449Phe