Canonical Allele Identifier: CA1052992931

Gene: SEMA5B

Linked Data

• dbSNP Id: rs1942628444
• gnomAD v3: 3-123019399-A-G
• gnomAD v4: 3-123019399-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123019399A>G , CM000665.2:g.123019399A>G	GRCh38
NC_000003.11:g.122738246A>G , CM000665.1:g.122738246A>G	GRCh37
NC_000003.10:g.124220936A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000357599.8:c.-39+8065T>C MANE Select	ENSP00000350215.3:n.-39+8065T>C
ENST00000648990.1:c.-51+8065T>C	ENSP00000497595.1:n.-51+8065T>C
ENST00000649167.1:n.248+8065T>C
ENST00000195173.8:c.-51+8065T>C	ENSP00000195173.5:n.-51+8065T>C
ENST00000357599.7:c.-39+8065T>C	ENSP00000350215.3:n.-39+8065T>C
ENST00000421053.5:c.-39+7699T>C	ENSP00000401056.1:n.-39+7699T>C
ENST00000465147.1:n.303+8065T>C
ENST00000475244.5:c.-39+9048T>C	ENSP00000417570.1:n.-39+9048T>C
ENST00000477001.1:n.115+8065T>C
NM_001031702.3:c.-39+8065T>C	NP_001026872.2:n.-39+8065T>C
NM_001256348.1:c.-51+8065T>C	NP_001243277.1:n.-51+8065T>C
NR_046079.1:n.159+9048T>C
XM_011512918.1:c.-51+8065T>C	XP_011511220.1:n.-51+8065T>C
XR_924407.1:n.12-2613A>G
XM_017006639.1:c.-51+8065T>C	XP_016862128.1:n.-51+8065T>C
NM_001031702.4:c.-39+8065T>C MANE Select	NP_001026872.2:n.-39+8065T>C
NM_001256348.2:c.-51+8065T>C	NP_001243277.1:n.-51+8065T>C
NR_046079.2:n.159+9048T>C