Canonical Allele Identifier: CA161920461
Gene: SEMA3D HGNC NCBI

Linked Data

dbSNP Id: rs944493121
gnomAD v3: 7-85096270-A-G
gnomAD v4: 7-85096270-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.85096270A>G , CM000669.2:g.85096270A>G GRCh38
NC_000007.13:g.84725586A>G , CM000669.1:g.84725586A>G GRCh37
NC_000007.12:g.84563522A>G NCBI36
NG_051329.1:g.95586T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284136.11:c.312+1535T>C MANE Select ENSP00000284136.6:n.312+1535T>C
ENST00000284136.10:c.312+1535T>C ENSP00000284136.6:n.312+1535T>C
ENST00000444867.1:c.312+1535T>C ENSP00000401366.1:n.312+1535T>C
NM_152754.2:c.312+1535T>C NP_689967.2:n.312+1535T>C
XM_011515960.1:c.312+1535T>C XP_011514262.1:n.312+1535T>C
XM_011515961.1:c.-271+1535T>C XP_011514263.1:n.-271+1535T>C
XM_011515961.2:c.-271+1535T>C XP_011514263.1:n.-271+1535T>C
XM_017011873.1:c.312+1535T>C XP_016867362.1:n.312+1535T>C
NM_001384900.1:c.312+1535T>C MANE Select NP_001371829.1:n.312+1535T>C
NM_001384901.1:c.312+1535T>C NP_001371830.1:n.312+1535T>C
NM_001384902.1:c.312+1535T>C NP_001371831.1:n.312+1535T>C
NM_001384903.1:c.312+1535T>C NP_001371832.1:n.312+1535T>C
NM_152754.3:c.312+1535T>C NP_689967.2:n.312+1535T>C