Canonical Allele Identifier: CA2683556125

Gene: SEMA3E

Linked Data

• gnomAD v4: 7-83392517-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83392517T>G , CM000669.2:g.83392517T>G	GRCh38
NC_000007.13:g.83021833T>G , CM000669.1:g.83021833T>G	GRCh37
NC_000007.12:g.82859769T>G	NCBI36
NG_021242.1:g.261647A>C
NG_021242.2:g.261647A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.1487+38A>C	ENSP00000405052.1:n.1487+38A>C
ENST00000642232.1:c.1667+38A>C	ENSP00000494064.1:n.1667+38A>C
ENST00000643230.2:c.1667+38A>C MANE Select	ENSP00000496491.1:n.1667+38A>C
ENST00000643441.1:n.1652+38A>C
ENST00000307792.7:c.1667+38A>C	ENSP00000303212.3:n.1667+38A>C
ENST00000427262.5:c.1487+38A>C	ENSP00000405052.1:n.1487+38A>C
NM_001178129.1:c.1487+38A>C	NP_001171600.1:n.1487+38A>C
NM_012431.2:c.1667+38A>C	NP_036563.1:n.1667+38A>C
XM_011516715.1:c.1667+38A>C	XP_011515017.1:n.1667+38A>C
NM_012431.3:c.1667+38A>C MANE Select	NP_036563.1:n.1667+38A>C
NM_001178129.2:c.1487+38A>C	NP_001171600.1:n.1487+38A>C