Canonical Allele Identifier: CA367930289

Gene: SEMA3E

Linked Data

• MyVariant Identifiers: chr7:g.83036480G>T (hg19) ; chr7:g.83407164G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407164G>T , CM000669.2:g.83407164G>T	GRCh38
NC_000007.13:g.83036480G>T , CM000669.1:g.83036480G>T	GRCh37
NC_000007.12:g.82874416G>T	NCBI36
NG_021242.1:g.247000C>A
NG_021242.2:g.247000C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.566C>A	ENSP00000405052.1:p.Thr189Asn
ENST00000642232.1:c.746C>A	ENSP00000494064.1:p.Thr249Asn
ENST00000643230.2:c.746C>A MANE Select	ENSP00000496491.1:p.Thr249Asn
ENST00000643441.1:n.731C>A
ENST00000644381.1:n.309C>A
ENST00000307792.7:c.746C>A	ENSP00000303212.3:p.Thr249Asn
ENST00000427262.5:c.566C>A	ENSP00000405052.1:p.Thr189Asn
NM_001178129.1:c.566C>A	NP_001171600.1:p.Thr189Asn
NM_012431.2:c.746C>A	NP_036563.1:p.Thr249Asn
XM_011516715.1:c.746C>A	XP_011515017.1:p.Thr249Asn
NM_012431.3:c.746C>A MANE Select	NP_036563.1:p.Thr249Asn
NM_001178129.2:c.566C>A	NP_001171600.1:p.Thr189Asn