Canonical Allele Identifier: CA1052992927

Gene: SEMA5B

Linked Data

• dbSNP Id: rs1942627834
• gnomAD v3: 3-123019370-T-A
• gnomAD v4: 3-123019370-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123019370T>A , CM000665.2:g.123019370T>A	GRCh38
NC_000003.11:g.122738217T>A , CM000665.1:g.122738217T>A	GRCh37
NC_000003.10:g.124220907T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357599.8:c.-39+8094A>T MANE Select	ENSP00000350215.3:n.-39+8094A>T
ENST00000648990.1:c.-51+8094A>T	ENSP00000497595.1:n.-51+8094A>T
ENST00000649167.1:n.248+8094A>T
ENST00000195173.8:c.-51+8094A>T	ENSP00000195173.5:n.-51+8094A>T
ENST00000357599.7:c.-39+8094A>T	ENSP00000350215.3:n.-39+8094A>T
ENST00000421053.5:c.-39+7728A>T	ENSP00000401056.1:n.-39+7728A>T
ENST00000465147.1:n.303+8094A>T
ENST00000475244.5:c.-39+9077A>T	ENSP00000417570.1:n.-39+9077A>T
ENST00000477001.1:n.115+8094A>T
NM_001031702.3:c.-39+8094A>T	NP_001026872.2:n.-39+8094A>T
NM_001256348.1:c.-51+8094A>T	NP_001243277.1:n.-51+8094A>T
NR_046079.1:n.159+9077A>T
XM_011512918.1:c.-51+8094A>T	XP_011511220.1:n.-51+8094A>T
XR_924407.1:n.12-2642T>A
XM_017006639.1:c.-51+8094A>T	XP_016862128.1:n.-51+8094A>T
NM_001031702.4:c.-39+8094A>T MANE Select	NP_001026872.2:n.-39+8094A>T
NM_001256348.2:c.-51+8094A>T	NP_001243277.1:n.-51+8094A>T
NR_046079.2:n.159+9077A>T