Canonical Allele Identifier: CA367930425

Gene: SEMA3E

Linked Data

• dbSNP Id: rs1584227087
• gnomAD v4: 7-83407219-A-T
• MyVariant Identifiers: chr7:g.83036535A>T (hg19) ; chr7:g.83407219A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407219A>T , CM000669.2:g.83407219A>T	GRCh38
NC_000007.13:g.83036535A>T , CM000669.1:g.83036535A>T	GRCh37
NC_000007.12:g.82874471A>T	NCBI36
NG_021242.1:g.246945T>A
NG_021242.2:g.246945T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.511T>A	ENSP00000405052.1:p.Tyr171Asn
ENST00000642232.1:c.691T>A	ENSP00000494064.1:p.Tyr231Asn
ENST00000643230.2:c.691T>A MANE Select	ENSP00000496491.1:p.Tyr231Asn
ENST00000643441.1:n.676T>A
ENST00000644381.1:n.254T>A
ENST00000307792.7:c.691T>A	ENSP00000303212.3:p.Tyr231Asn
ENST00000427262.5:c.511T>A	ENSP00000405052.1:p.Tyr171Asn
NM_001178129.1:c.511T>A	NP_001171600.1:p.Tyr171Asn
NM_012431.2:c.691T>A	NP_036563.1:p.Tyr231Asn
XM_011516715.1:c.691T>A	XP_011515017.1:p.Tyr231Asn
NM_012431.3:c.691T>A MANE Select	NP_036563.1:p.Tyr231Asn
NM_001178129.2:c.511T>A	NP_001171600.1:p.Tyr171Asn