Canonical Allele Identifier: CA367930408

Gene: SEMA3E

Linked Data

• MyVariant Identifiers: chr7:g.83036529T>G (hg19) ; chr7:g.83407213T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407213T>G , CM000669.2:g.83407213T>G	GRCh38
NC_000007.13:g.83036529T>G , CM000669.1:g.83036529T>G	GRCh37
NC_000007.12:g.82874465T>G	NCBI36
NG_021242.1:g.246951A>C
NG_021242.2:g.246951A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.517A>C	ENSP00000405052.1:p.Ile173Leu
ENST00000642232.1:c.697A>C	ENSP00000494064.1:p.Ile233Leu
ENST00000643230.2:c.697A>C MANE Select	ENSP00000496491.1:p.Ile233Leu
ENST00000643441.1:n.682A>C
ENST00000644381.1:n.260A>C
ENST00000307792.7:c.697A>C	ENSP00000303212.3:p.Ile233Leu
ENST00000427262.5:c.517A>C	ENSP00000405052.1:p.Ile173Leu
NM_001178129.1:c.517A>C	NP_001171600.1:p.Ile173Leu
NM_012431.2:c.697A>C	NP_036563.1:p.Ile233Leu
XM_011516715.1:c.697A>C	XP_011515017.1:p.Ile233Leu
NM_012431.3:c.697A>C MANE Select	NP_036563.1:p.Ile233Leu
NM_001178129.2:c.517A>C	NP_001171600.1:p.Ile173Leu