Canonical Allele Identifier: CA74623367
Community Standard Title: NM_001290060.2(SEMA3B):c.1193T>C (p.Val398Ala)
Gene: SEMA3B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50274418T>C , CM000665.2:g.50274418T>C GRCh38
NC_000003.11:g.50311849T>C , CM000665.1:g.50311849T>C GRCh37
NC_000003.10:g.50286853T>C NCBI36
NG_032938.1:g.11811T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001290060.2:c.1193T>C MANE Select NP_001276989.1:p.Val398Ala
ENST00000616701.5:c.1193T>C MANE Select ENSP00000484146.1:p.Val398Ala
NM_001005914.2:c.1190T>C NP_001005914.1:p.Val397Ala
NM_001005914.3:c.1190T>C NP_001005914.1:p.Val397Ala
NM_001290060.1:c.1193T>C NP_001276989.1:p.Val398Ala
NM_001290061.1:c.1208T>C NP_001276990.1:p.Val403Ala
NM_001290062.1:c.164T>C NP_001276991.1:p.Val55Ala
NM_001290062.2:c.164T>C NP_001276991.1:p.Val55Ala
NM_001290063.1:c.164T>C NP_001276992.1:p.Val55Ala
NM_001290063.2:c.164T>C NP_001276992.1:p.Val55Ala
NM_004636.3:c.1193T>C NP_004627.1:p.Val398Ala
NM_004636.4:c.1193T>C NP_004627.1:p.Val398Ala
NR_110697.1:n.364T>C
ENST00000418576.3:c.164T>C ENSP00000485173.1:p.Val55Ala
ENST00000419007.5:n.989T>C
ENST00000433753.4:c.1190T>C ENSP00000485281.1:p.Val397Ala
ENST00000439487.5:n.482T>C
ENST00000441915.5:n.1189T>C
ENST00000456210.5:n.326T>C
ENST00000456560.6:c.164T>C ENSP00000485646.1:p.Val55Ala
ENST00000611067.4:c.1208T>C ENSP00000480680.1:p.Val403Ala
ENST00000611418.4:c.1192T>C ENSP00000484583.1:p.Ser398Pro
ENST00000616701.4:c.1193T>C ENSP00000484146.1:p.Val398Ala
ENST00000618865.4:c.1193T>C ENSP00000481957.1:p.Val398Ala
ENST00000619119.4:n.1668T>C