Canonical Allele Identifier: CA367930221

Gene: SEMA3E

Linked Data

• gnomAD v4: 7-83407134-G-A
• MyVariant Identifiers: chr7:g.83036450G>A (hg19) ; chr7:g.83407134G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407134G>A , CM000669.2:g.83407134G>A	GRCh38
NC_000007.13:g.83036450G>A , CM000669.1:g.83036450G>A	GRCh37
NC_000007.12:g.82874386G>A	NCBI36
NG_021242.1:g.247030C>T
NG_021242.2:g.247030C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.596C>T	ENSP00000405052.1:p.Ala199Val
ENST00000642232.1:c.776C>T	ENSP00000494064.1:p.Ala259Val
ENST00000643230.2:c.776C>T MANE Select	ENSP00000496491.1:p.Ala259Val
ENST00000643441.1:n.761C>T
ENST00000307792.7:c.776C>T	ENSP00000303212.3:p.Ala259Val
ENST00000427262.5:c.596C>T	ENSP00000405052.1:p.Ala199Val
NM_001178129.1:c.596C>T	NP_001171600.1:p.Ala199Val
NM_012431.2:c.776C>T	NP_036563.1:p.Ala259Val
XM_011516715.1:c.776C>T	XP_011515017.1:p.Ala259Val
NM_012431.3:c.776C>T MANE Select	NP_036563.1:p.Ala259Val
NM_001178129.2:c.596C>T	NP_001171600.1:p.Ala199Val