Canonical Allele Identifier: CA367923115

Gene: SEMA3E

Linked Data

• gnomAD v4: 7-83392594-G-T
• MyVariant Identifiers: chr7:g.83021910G>T (hg19) ; chr7:g.83392594G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83392594G>T , CM000669.2:g.83392594G>T	GRCh38
NC_000007.13:g.83021910G>T , CM000669.1:g.83021910G>T	GRCh37
NC_000007.12:g.82859846G>T	NCBI36
NG_021242.1:g.261570C>A
NG_021242.2:g.261570C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.1448C>A	ENSP00000405052.1:p.Ser483Tyr
ENST00000642232.1:c.1628C>A	ENSP00000494064.1:p.Ser543Tyr
ENST00000643230.2:c.1628C>A MANE Select	ENSP00000496491.1:p.Ser543Tyr
ENST00000643441.1:n.1613C>A
ENST00000307792.7:c.1628C>A	ENSP00000303212.3:p.Ser543Tyr
ENST00000427262.5:c.1448C>A	ENSP00000405052.1:p.Ser483Tyr
NM_001178129.1:c.1448C>A	NP_001171600.1:p.Ser483Tyr
NM_012431.2:c.1628C>A	NP_036563.1:p.Ser543Tyr
XM_011516715.1:c.1628C>A	XP_011515017.1:p.Ser543Tyr
NM_012431.3:c.1628C>A MANE Select	NP_036563.1:p.Ser543Tyr
NM_001178129.2:c.1448C>A	NP_001171600.1:p.Ser483Tyr