Canonical Allele Identifier: CA367923285

Gene: SEMA3E

Linked Data

• MyVariant Identifiers: chr7:g.83021946A>T (hg19) ; chr7:g.83392630A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83392630A>T , CM000669.2:g.83392630A>T	GRCh38
NC_000007.13:g.83021946A>T , CM000669.1:g.83021946A>T	GRCh37
NC_000007.12:g.82859882A>T	NCBI36
NG_021242.1:g.261534T>A
NG_021242.2:g.261534T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.1412T>A	ENSP00000405052.1:p.Leu471Gln
ENST00000642232.1:c.1592T>A	ENSP00000494064.1:p.Leu531Gln
ENST00000643230.2:c.1592T>A MANE Select	ENSP00000496491.1:p.Leu531Gln
ENST00000643441.1:n.1577T>A
ENST00000307792.7:c.1592T>A	ENSP00000303212.3:p.Leu531Gln
ENST00000427262.5:c.1412T>A	ENSP00000405052.1:p.Leu471Gln
NM_001178129.1:c.1412T>A	NP_001171600.1:p.Leu471Gln
NM_012431.2:c.1592T>A	NP_036563.1:p.Leu531Gln
XM_011516715.1:c.1592T>A	XP_011515017.1:p.Leu531Gln
NM_012431.3:c.1592T>A MANE Select	NP_036563.1:p.Leu531Gln
NM_001178129.2:c.1412T>A	NP_001171600.1:p.Leu471Gln