Canonical Allele Identifier: CA4322430

Gene: SEMA3E

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83490188C>T , CM000669.2:g.83490188C>T	GRCh38
NC_000007.13:g.83119504C>T , CM000669.1:g.83119504C>T	GRCh37
NC_000007.12:g.82957440C>T	NCBI36
NG_021242.1:g.163976G>A
NG_021242.2:g.163976G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.22G>A	ENSP00000405052.1:p.Glu8Lys
ENST00000453333.2:c.*183G>A	ENSP00000415184.1:n.*183G>A
ENST00000642232.1:c.202G>A	ENSP00000494064.1:p.Glu68Lys
ENST00000643230.2:c.202G>A MANE Select	ENSP00000496491.1:p.Glu68Lys
ENST00000643441.1:n.187G>A
ENST00000307792.7:c.202G>A	ENSP00000303212.3:p.Glu68Lys
ENST00000427262.5:c.22G>A	ENSP00000405052.1:p.Glu8Lys
ENST00000442159.3:c.22G>A	ENSP00000412867.3:p.Glu8Lys
ENST00000453333.1:c.*183G>A	ENSP00000415184.1:n.*183G>A
NM_001178129.1:c.22G>A	NP_001171600.1:p.Glu8Lys
NM_012431.2:c.202G>A	NP_036563.1:p.Glu68Lys
XM_011516715.1:c.202G>A	XP_011515017.1:p.Glu68Lys
NM_012431.3:c.202G>A MANE Select	NP_036563.1:p.Glu68Lys
NM_001178129.2:c.22G>A	NP_001171600.1:p.Glu8Lys